Tall Stature-Intellectual Disability-Renal Anomalies Syndrome

Developmental Disorder MONDO:0014918 Pathograph 9 hereditary disease developmental disorder

Tall stature-intellectual disability-renal anomalies syndrome is a rare, genetically heterogeneous developmental overgrowth syndrome defined by the combination of postnatal overgrowth, neurodevelopmental impairment, and congenital renal malformations. Current evidence supports at least two mechanistic subtype branches within this MONDO concept: distal 15q dosage gain with IGF1R overexpression and FIBP-related Thauvin-Robinet-Faivre syndrome.

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4
Pathophys.
6
Phenotypes
9
Pathograph
2
Genes
2
Treatments
2
Subtypes
3
Differentials
1
Deep Research
◆

Subtypes

2
15q overgrowth syndrome
A distal chromosome 15q trisomy or tetrasomy overgrowth syndrome with recurrent tall stature, learning difficulties, characteristic facial appearance, and frequent renal anomalies.
Show evidence (1 reference)
DOI:10.1002/ajmg.a.32534 SUPPORT
"We provide further support for a distinct “15q overgrowth syndrome” caused by either trisomy or tetrasomy resulting in increased dosage of distal 15q."
This directly supports distal 15q dosage gain as one mechanistic subtype within the broader syndrome label.
Thauvin-Robinet-Faivre syndrome
An autosomal recessive FIBP-related overgrowth syndrome with developmental disability and variable renal dysplasia.
Show evidence (1 reference)
DOI:10.1002/ajmg.a.37741 SUPPORT
"Here, we have identified the genetic etiology and the pathogenetic mechanism underlying a rare autosomal recessive overgrowth syndrome in three affected siblings."
This supports an autosomal recessive FIBP-related subtype within the broader MONDO entity.
⚙

Pathophysiology

4
Distal 15q Dosage Gain
In one major subtype branch, distal chromosome 15q trisomy or tetrasomy increases dosage of growth-regulatory genes, especially IGF1R, creating a syndromic overgrowth and renal-anomaly phenotype.
IGF1R link
Downstream
IGF1R Overexpression and Growth Signaling Activation Distal 15q dosage gain can increase IGF1R expression and downstream growth signaling.
Show evidence (1 reference)
DOI:10.1002/ajmg.a.32534 SUPPORT
"We provide further support for a distinct “15q overgrowth syndrome” caused by either trisomy or tetrasomy resulting in increased dosage of distal 15q."
This directly supports distal 15q copy-number gain as an upstream causal mechanism.
IGF1R Overexpression and Growth Signaling Activation
Increased IGF1R dosage and expression amplify downstream growth signaling, contributing to postnatal overgrowth and syndromic developmental abnormalities.
IGF1R link
phosphatidylinositol 3-kinase/protein kinase B signal transduction link ⚠ ABNORMAL TOR signaling link ⚠ ABNORMAL cell growth link ↑ INCREASED
Downstream
Tall Stature Increased IGF1R signaling contributes to postnatal somatic overgrowth.
Intellectual Disability Dysregulated growth signaling is associated with neurodevelopmental impairment in this subtype.
Renal Anomalies The same dosage-gain syndrome frequently includes congenital renal malformations.
Show evidence (1 reference)
DOI:10.1530/EC-17-0158 SUPPORT
"We found a 1.8-fold increase in the IGF1R mRNA and a 1.3-fold increase in the IGF1R protein expression (P < 0.05)."
This directly supports increased IGF1R expression as the proximal molecular consequence of the 15q dosage-gain subtype.
FIBP Dysfunction
In another subtype branch, biallelic FIBP variants alter a fibroblast growth factor-signaling mediator and define an autosomal recessive overgrowth syndrome with developmental and renal involvement.
FIBP link
Downstream
Increased Fibroblast Proliferation FIBP dysfunction alters growth-control pathways and increases fibroblast proliferation.
Show evidence (1 reference)
DOI:10.1002/ajmg.a.37741 SUPPORT
"The disease was mapped to 3p21.1‐p14.2 and 11q13.1‐q13.4, where an in‐frame insertion (c.175_176insTAA) inFIBPgene was revealed."
This directly supports FIBP as the causal gene in the autosomal recessive subtype.
Increased Fibroblast Proliferation
Patient-derived fibroblasts with FIBP dysfunction show increased proliferative capacity, providing a cellular explanation for the overgrowth phenotype.
fibroblast link
FIBP link
fibroblast proliferation link ↑ INCREASED fibroblast growth factor receptor signaling pathway link ⚠ ABNORMAL
Downstream
Tall Stature Increased fibroblast proliferative capacity is consistent with the generalized overgrowth phenotype.
Intellectual Disability FIBP dysfunction is linked to developmental and cognitive impairment in affected patients.
Renal Anomalies The same syndrome includes renal dysplasia and related urinary tract anomalies.
Show evidence (1 reference)
DOI:10.1002/ajmg.a.37741 SUPPORT In Vitro
"The patients’ skin fibroblasts showed an increased proliferation capacity compared to the controls’ explaining the observed overgrowth phenotype."
This provides direct in vitro support for increased fibroblast proliferation as a mechanistic intermediate.
⬡

Pathograph

Use the checkboxes to hide or show graph categories. Hover nodes for evidence and cross-linked metadata.
Pathograph: causal mechanism network for Tall Stature-Intellectual Disability-Renal Anomalies Syndrome Interactive directed graph showing how pathophysiology mechanisms, phenotypes, genetic factors and variants, experimental models, environmental triggers, and treatments relate through causal and linked edges.
●

Phenotypes

6
Genitourinary 2
Nephroblastoma Predisposition OCCASIONAL Nephroblastoma (HP:0002667)
Show evidence (1 reference)
DOI:10.1002/ajmg.a.37741 SUPPORT
"Taken all together, these findings provide convincing evidence implicatingFIBPaberrations in the newly recognized overgrowth syndrome and expand the associated phenotypes to include possible Wilms tumor predisposition."
This directly supports Wilms tumor predisposition as an expanded phenotype in the FIBP-related subtype.
Horseshoe Kidney OCCASIONAL Horseshoe kidney (HP:0000085)
Show evidence (1 reference)
DOI:10.1002/ajmg.a.32534 SUPPORT
"Renal anomalies included renal agenesis, horseshoe kidney, and hydronephrosis."
This directly supports horseshoe kidney as a specific renal manifestation within the syndrome spectrum.
Head and Neck 1
Long Face FREQUENT Long face (HP:0000276)
Show evidence (1 reference)
DOI:10.1002/ajmg.a.32534 SUPPORT
"The gestalt consists of a long, thin face with a prominent chin and nose."
This directly supports a long-face craniofacial phenotype.
Nervous System 1
Intellectual Disability VERY_FREQUENT Intellectual disability (HP:0001249)
Show evidence (2 references)
DOI:10.1002/ajmg.a.32534 SUPPORT
"In addition to the overgrowth and learning difficulties, all five had a characteristic facial appearance and three had renal anomalies."
This supports learning difficulties as a constant neurodevelopmental feature in the distal 15q subtype.
DOI:10.1002/ajmg.a.37741 SUPPORT
"The overgrowth phenotype in the patients was accompanied by developmental delay, learning disabilities, and variable congenital abnormalities."
This independently supports developmental and learning impairment in the FIBP-related subtype.
Growth 1
Tall Stature FREQUENT Tall stature (HP:0000098)
Show evidence (2 references)
DOI:10.1002/ajmg.a.32534 SUPPORT
"Although most of the described patients have some learning difficulties and are overgrown,"
This directly supports overgrowth as a recurrent phenotype in the distal 15q subtype.
DOI:10.1002/ajmg.a.37741 SUPPORT
"The overgrowth phenotype in the patients was accompanied by developmental delay, learning disabilities, and variable congenital abnormalities."
This independently supports overgrowth in the FIBP-related subtype.
Other 1
Renal Anomalies FREQUENT Abnormal renal morphology (HP:0012210)
Show evidence (2 references)
DOI:10.1002/ajmg.a.32534 SUPPORT
"Renal anomalies included renal agenesis, horseshoe kidney, and hydronephrosis."
This directly supports congenital renal anomalies in the distal 15q subtype.
DOI:10.1002/ajmg.a.37741 SUPPORT
"A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor is caused by a mutation in<i>FIBP</i>gene"
The title directly supports renal dysplasia in the FIBP-related subtype.
🧬

Genetic Associations

2
IGF1R (Contributes to disease susceptibility)
Show evidence (1 reference)
DOI:10.1002/ajmg.a.32534 SUPPORT
"We provide further support for a distinct “15q overgrowth syndrome” caused by either trisomy or tetrasomy resulting in increased dosage of distal 15q."
This supports a chromosomal dosage-gain etiology involving distal 15q genes, often including IGF1R.
FIBP (Causal mutations reported)
Show evidence (1 reference)
DOI:10.1002/ajmg.a.37741 SUPPORT
"The disease was mapped to 3p21.1‐p14.2 and 11q13.1‐q13.4, where an in‐frame insertion (c.175_176insTAA) inFIBPgene was revealed."
This directly supports FIBP as the causal gene in a syndromic overgrowth subtype matching this MONDO concept.
💊

Treatments

2
Genetic counseling
Action: genetic counseling MAXO:0000079
Genetic counseling is appropriate because the syndrome includes both chromosomal dosage-gain and autosomal recessive FIBP-related subtypes.
Show evidence (1 reference)
DOI:10.1002/ajmg.a.37741 SUPPORT
"Here, we have identified the genetic etiology and the pathogenetic mechanism underlying a rare autosomal recessive overgrowth syndrome in three affected siblings."
Establishing an autosomal recessive etiology supports family genetic counseling for the FIBP-related subtype.
Multidisciplinary long-term follow-up
Action: supportive care MAXO:0000950
Multidisciplinary follow-up is relevant for TROFAS because later reports have broadened the subtype phenotype to include ophthalmologic, airway, skeletal, and cardiac manifestations.
Show evidence (1 reference)
DOI:10.1007/s13353-025-00984-2 SUPPORT
"The findings significantly broaden the phenotypic landscape of TROFAS and underscore the need for multidisciplinary management and long-term follow-up."
This directly supports multidisciplinary management and long-term follow-up for the FIBP/TROFAS subtype.
🔀

Differential Diagnoses

3

Conditions with similar clinical presentations that must be differentiated from Tall Stature-Intellectual Disability-Renal Anomalies Syndrome:

Sotos syndrome
Overlapping Features A major overgrowth-intellectual disability differential diagnosis.
Distinguishing Features
  • NSD1-related disease has a distinct molecular etiology from distal 15q dosage gain or FIBP-related TROFAS.
Weaver syndrome
Overlapping Features An EZH2-related overgrowth syndrome that overlaps clinically with tall stature and neurodevelopmental impairment.
Distinguishing Features
  • Molecular testing distinguishes EZH2-related overgrowth from distal 15q dosage gain and FIBP-related disease.
Simpson-Golabi-Behmel syndrome
Overlapping Features A syndromic overgrowth differential with renal and tumor-predisposition overlap.
Distinguishing Features
  • GPC3-related X-linked inheritance and characteristic congenital anomalies distinguish it from this syndrome.
{ }

Source YAML

click to show 
name: Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
creation_date: "2026-04-23T00:00:00Z"
updated_date: "2026-04-24T00:00:00Z"
description: >-
  Tall stature-intellectual disability-renal anomalies syndrome is a rare,
  genetically heterogeneous developmental overgrowth syndrome defined by the
  combination of postnatal overgrowth, neurodevelopmental impairment, and
  congenital renal malformations. Current evidence supports at least two
  mechanistic subtype branches within this MONDO concept: distal 15q dosage
  gain with IGF1R overexpression and FIBP-related Thauvin-Robinet-Faivre
  syndrome.
category: Developmental Disorder
parents:
  - hereditary disease
  - developmental disorder
disease_term:
  preferred_term: tall stature-intellectual disability-renal anomalies syndrome
  term:
    id: MONDO:0014918
    label: tall stature-intellectual disability-renal anomalies syndrome
has_subtypes:
  - name: 15q overgrowth syndrome
    description: >-
      A distal chromosome 15q trisomy or tetrasomy overgrowth syndrome with
      recurrent tall stature, learning difficulties, characteristic facial
      appearance, and frequent renal anomalies.
    evidence:
      - reference: DOI:10.1002/ajmg.a.32534
        reference_title: >-
          15q overgrowth syndrome: A newly recognized phenotype associated with
          overgrowth, learning difficulties, characteristic facial appearance,
          renal anomalies and increased dosage of distal chromosome 15q
        supports: SUPPORT
        snippet: >-
          We provide further support for a distinct “15q overgrowth syndrome”
          caused by either trisomy or tetrasomy resulting in increased dosage
          of distal 15q.
        explanation: >-
          This directly supports distal 15q dosage gain as one mechanistic
          subtype within the broader syndrome label.
  - name: Thauvin-Robinet-Faivre syndrome
    description: >-
      An autosomal recessive FIBP-related overgrowth syndrome with
      developmental disability and variable renal dysplasia.
    evidence:
      - reference: DOI:10.1002/ajmg.a.37741
        reference_title: >-
          A recessive syndrome of intellectual disability, moderate overgrowth,
          and renal dysplasia predisposing to Wilms tumor is caused by a
          mutation in<i>FIBP</i>gene
        supports: SUPPORT
        snippet: >-
          Here, we have identified the genetic etiology and the pathogenetic
          mechanism underlying a rare autosomal recessive overgrowth syndrome in
          three affected siblings.
        explanation: >-
          This supports an autosomal recessive FIBP-related subtype within the
          broader MONDO entity.
pathophysiology:
  - name: Distal 15q Dosage Gain
    description: >-
      In one major subtype branch, distal chromosome 15q trisomy or tetrasomy
      increases dosage of growth-regulatory genes, especially IGF1R, creating a
      syndromic overgrowth and renal-anomaly phenotype.
    genes:
      - preferred_term: IGF1R
        term:
          id: hgnc:5465
          label: IGF1R
    evidence:
      - reference: DOI:10.1002/ajmg.a.32534
        reference_title: >-
          15q overgrowth syndrome: A newly recognized phenotype associated with
          overgrowth, learning difficulties, characteristic facial appearance,
          renal anomalies and increased dosage of distal chromosome 15q
        supports: SUPPORT
        snippet: >-
          We provide further support for a distinct “15q overgrowth syndrome”
          caused by either trisomy or tetrasomy resulting in increased dosage
          of distal 15q.
        explanation: >-
          This directly supports distal 15q copy-number gain as an upstream
          causal mechanism.
    downstream:
      - target: IGF1R Overexpression and Growth Signaling Activation
        description: Distal 15q dosage gain can increase IGF1R expression and downstream growth signaling.
  - name: IGF1R Overexpression and Growth Signaling Activation
    description: >-
      Increased IGF1R dosage and expression amplify downstream growth signaling,
      contributing to postnatal overgrowth and syndromic developmental
      abnormalities.
    genes:
      - preferred_term: IGF1R
        term:
          id: hgnc:5465
          label: IGF1R
    biological_processes:
      - preferred_term: phosphatidylinositol 3-kinase/protein kinase B signal transduction
        term:
          id: GO:0043491
          label: phosphatidylinositol 3-kinase/protein kinase B signal transduction
        modifier: ABNORMAL
      - preferred_term: TOR signaling
        term:
          id: GO:0031929
          label: TOR signaling
        modifier: ABNORMAL
      - preferred_term: cell growth
        term:
          id: GO:0016049
          label: cell growth
        modifier: INCREASED
    evidence:
      - reference: DOI:10.1530/EC-17-0158
        reference_title: "Chromosome 15 structural abnormalities: effect on IGF1R gene expression and function"
        supports: SUPPORT
        snippet: >-
          We found a 1.8-fold increase in the IGF1R mRNA and a 1.3-fold
          increase in the IGF1R protein expression (P < 0.05).
        explanation: >-
          This directly supports increased IGF1R expression as the proximal
          molecular consequence of the 15q dosage-gain subtype.
    downstream:
      - target: Tall Stature
        description: Increased IGF1R signaling contributes to postnatal somatic overgrowth.
      - target: Intellectual Disability
        description: Dysregulated growth signaling is associated with neurodevelopmental impairment in this subtype.
      - target: Renal Anomalies
        description: The same dosage-gain syndrome frequently includes congenital renal malformations.
  - name: FIBP Dysfunction
    description: >-
      In another subtype branch, biallelic FIBP variants alter a fibroblast
      growth factor-signaling mediator and define an autosomal recessive
      overgrowth syndrome with developmental and renal involvement.
    genes:
      - preferred_term: FIBP
        term:
          id: hgnc:3705
          label: FIBP
    evidence:
      - reference: DOI:10.1002/ajmg.a.37741
        reference_title: >-
          A recessive syndrome of intellectual disability, moderate overgrowth,
          and renal dysplasia predisposing to Wilms tumor is caused by a
          mutation in<i>FIBP</i>gene
        supports: SUPPORT
        snippet: >-
          The disease was mapped to 3p21.1‐p14.2 and 11q13.1‐q13.4, where an
          in‐frame insertion (c.175_176insTAA) inFIBPgene was revealed.
        explanation: >-
          This directly supports FIBP as the causal gene in the autosomal
          recessive subtype.
    downstream:
      - target: Increased Fibroblast Proliferation
        description: FIBP dysfunction alters growth-control pathways and increases fibroblast proliferation.
  - name: Increased Fibroblast Proliferation
    description: >-
      Patient-derived fibroblasts with FIBP dysfunction show increased
      proliferative capacity, providing a cellular explanation for the
      overgrowth phenotype.
    genes:
      - preferred_term: FIBP
        term:
          id: hgnc:3705
          label: FIBP
    cell_types:
      - preferred_term: fibroblast
        term:
          id: CL:0000057
          label: fibroblast
    biological_processes:
      - preferred_term: fibroblast proliferation
        term:
          id: GO:0048144
          label: fibroblast proliferation
        modifier: INCREASED
      - preferred_term: fibroblast growth factor receptor signaling pathway
        term:
          id: GO:0008543
          label: fibroblast growth factor receptor signaling pathway
        modifier: ABNORMAL
    evidence:
      - reference: DOI:10.1002/ajmg.a.37741
        reference_title: >-
          A recessive syndrome of intellectual disability, moderate overgrowth,
          and renal dysplasia predisposing to Wilms tumor is caused by a
          mutation in<i>FIBP</i>gene
        supports: SUPPORT
        evidence_source: IN_VITRO
        snippet: >-
          The patients’ skin fibroblasts showed an increased proliferation
          capacity compared to the controls’ explaining the observed overgrowth
          phenotype.
        explanation: >-
          This provides direct in vitro support for increased fibroblast
          proliferation as a mechanistic intermediate.
    downstream:
      - target: Tall Stature
        description: Increased fibroblast proliferative capacity is consistent with the generalized overgrowth phenotype.
      - target: Intellectual Disability
        description: FIBP dysfunction is linked to developmental and cognitive impairment in affected patients.
      - target: Renal Anomalies
        description: The same syndrome includes renal dysplasia and related urinary tract anomalies.
phenotypes:
  - name: Tall Stature
    description: >-
      Postnatal overgrowth or tall stature is a defining feature across the
      syndrome spectrum.
    frequency: FREQUENT
    phenotype_term:
      preferred_term: tall stature
      term:
        id: HP:0000098
        label: Tall stature
    evidence:
      - reference: DOI:10.1002/ajmg.a.32534
        reference_title: >-
          15q overgrowth syndrome: A newly recognized phenotype associated with
          overgrowth, learning difficulties, characteristic facial appearance,
          renal anomalies and increased dosage of distal chromosome 15q
        supports: SUPPORT
        snippet: >-
          Although most of the described patients have some learning
          difficulties and are overgrown,
        explanation: >-
          This directly supports overgrowth as a recurrent phenotype in the
          distal 15q subtype.
      - reference: DOI:10.1002/ajmg.a.37741
        reference_title: >-
          A recessive syndrome of intellectual disability, moderate overgrowth,
          and renal dysplasia predisposing to Wilms tumor is caused by a
          mutation in<i>FIBP</i>gene
        supports: SUPPORT
        snippet: >-
          The overgrowth phenotype in the patients was accompanied by
          developmental delay, learning disabilities, and variable congenital
          abnormalities.
        explanation: >-
          This independently supports overgrowth in the FIBP-related subtype.
  - name: Intellectual Disability
    description: >-
      Cognitive impairment or learning disability is a core neurodevelopmental
      feature across the recognized syndrome branches.
    frequency: VERY_FREQUENT
    phenotype_term:
      preferred_term: intellectual disability
      term:
        id: HP:0001249
        label: Intellectual disability
    evidence:
      - reference: DOI:10.1002/ajmg.a.32534
        reference_title: >-
          15q overgrowth syndrome: A newly recognized phenotype associated with
          overgrowth, learning difficulties, characteristic facial appearance,
          renal anomalies and increased dosage of distal chromosome 15q
        supports: SUPPORT
        snippet: >-
          In addition to the overgrowth and learning difficulties, all five had
          a characteristic facial appearance and three had renal anomalies.
        explanation: >-
          This supports learning difficulties as a constant neurodevelopmental
          feature in the distal 15q subtype.
      - reference: DOI:10.1002/ajmg.a.37741
        reference_title: >-
          A recessive syndrome of intellectual disability, moderate overgrowth,
          and renal dysplasia predisposing to Wilms tumor is caused by a
          mutation in<i>FIBP</i>gene
        supports: SUPPORT
        snippet: >-
          The overgrowth phenotype in the patients was accompanied by
          developmental delay, learning disabilities, and variable congenital
          abnormalities.
        explanation: >-
          This independently supports developmental and learning impairment in
          the FIBP-related subtype.
  - name: Renal Anomalies
    description: >-
      Congenital renal malformations are a major syndromic feature and may
      include renal agenesis, horseshoe kidney, hydronephrosis, dysplasia, or
      nephromegaly depending on the genetic subtype.
    frequency: FREQUENT
    phenotype_term:
      preferred_term: abnormal renal morphology
      term:
        id: HP:0012210
        label: Abnormal renal morphology
    evidence:
      - reference: DOI:10.1002/ajmg.a.32534
        reference_title: >-
          15q overgrowth syndrome: A newly recognized phenotype associated with
          overgrowth, learning difficulties, characteristic facial appearance,
          renal anomalies and increased dosage of distal chromosome 15q
        supports: SUPPORT
        snippet: >-
          Renal anomalies included renal agenesis, horseshoe kidney, and
          hydronephrosis.
        explanation: >-
          This directly supports congenital renal anomalies in the distal 15q
          subtype.
      - reference: DOI:10.1002/ajmg.a.37741
        reference_title: >-
          A recessive syndrome of intellectual disability, moderate overgrowth,
          and renal dysplasia predisposing to Wilms tumor is caused by a
          mutation in<i>FIBP</i>gene
        supports: SUPPORT
        snippet: >-
          A recessive syndrome of intellectual disability, moderate overgrowth,
          and renal dysplasia predisposing to Wilms tumor is caused by a
          mutation in<i>FIBP</i>gene
        explanation: >-
          The title directly supports renal dysplasia in the FIBP-related
          subtype.
  - name: Nephroblastoma Predisposition
    subtype: Thauvin-Robinet-Faivre syndrome
    description: >-
      FIBP-related Thauvin-Robinet-Faivre syndrome may include predisposition
      to Wilms tumor/nephroblastoma.
    frequency: OCCASIONAL
    phenotype_term:
      preferred_term: nephroblastoma
      term:
        id: HP:0002667
        label: Nephroblastoma
    evidence:
      - reference: DOI:10.1002/ajmg.a.37741
        reference_title: >-
          A recessive syndrome of intellectual disability, moderate overgrowth,
          and renal dysplasia predisposing to Wilms tumor is caused by a
          mutation in<i>FIBP</i>gene
        supports: SUPPORT
        snippet: >-
          Taken all together, these findings provide convincing evidence
          implicatingFIBPaberrations in the newly recognized overgrowth syndrome
          and expand the associated phenotypes to include possible Wilms tumor
          predisposition.
        explanation: >-
          This directly supports Wilms tumor predisposition as an expanded
          phenotype in the FIBP-related subtype.
  - name: Long Face
    description: >-
      A long, thin face is part of the characteristic facial gestalt reported
      in the distal 15q dosage-gain subtype.
    frequency: FREQUENT
    phenotype_term:
      preferred_term: long face
      term:
        id: HP:0000276
        label: Long face
    evidence:
      - reference: DOI:10.1002/ajmg.a.32534
        reference_title: >-
          15q overgrowth syndrome: A newly recognized phenotype associated with
          overgrowth, learning difficulties, characteristic facial appearance,
          renal anomalies and increased dosage of distal chromosome 15q
        supports: SUPPORT
        snippet: >-
          The gestalt consists of a long, thin face with a prominent chin and
          nose.
        explanation: >-
          This directly supports a long-face craniofacial phenotype.
  - name: Horseshoe Kidney
    description: >-
      Horseshoe kidney is one of the recurrent congenital renal anomalies in
      this syndrome spectrum.
    frequency: OCCASIONAL
    phenotype_term:
      preferred_term: horseshoe kidney
      term:
        id: HP:0000085
        label: Horseshoe kidney
    evidence:
      - reference: DOI:10.1002/ajmg.a.32534
        reference_title: >-
          15q overgrowth syndrome: A newly recognized phenotype associated with
          overgrowth, learning difficulties, characteristic facial appearance,
          renal anomalies and increased dosage of distal chromosome 15q
        supports: SUPPORT
        snippet: >-
          Renal anomalies included renal agenesis, horseshoe kidney, and
          hydronephrosis.
        explanation: >-
          This directly supports horseshoe kidney as a specific renal
          manifestation within the syndrome spectrum.
diagnosis:
  - name: Molecular Genetic Testing
    description: >-
      Molecular testing is required to distinguish chromosomal distal 15q
      dosage gain from monogenic FIBP-related disease within this heterogeneous
      syndrome concept.
    diagnosis_term:
      preferred_term: molecular genetic testing
      term:
        id: MAXO:0000533
        label: molecular genetic testing
    evidence:
      - reference: DOI:10.1002/ajmg.a.37741
        reference_title: >-
          A recessive syndrome of intellectual disability, moderate overgrowth,
          and renal dysplasia predisposing to Wilms tumor is caused by a
          mutation in<i>FIBP</i>gene
        supports: SUPPORT
        snippet: >-
          To elucidate the genetic etiology of the disorder, whole‐genome
          genotyping and whole‐exome sequencing were used.
        explanation: >-
          This directly supports molecular genetic testing for etiologic
          confirmation.
  - name: Clinical Whole-Exome Sequencing
    description: >-
      Exome sequencing is useful when a monogenic overgrowth syndrome such as
      FIBP-related disease is suspected.
    diagnosis_term:
      preferred_term: clinical whole-exome sequencing
      term:
        id: MAXO:0009004
        label: clinical whole-exome sequencing
    evidence:
      - reference: DOI:10.1002/ajmg.a.37741
        reference_title: >-
          A recessive syndrome of intellectual disability, moderate overgrowth,
          and renal dysplasia predisposing to Wilms tumor is caused by a
          mutation in<i>FIBP</i>gene
        supports: SUPPORT
        snippet: >-
          To elucidate the genetic etiology of the disorder, whole‐genome
          genotyping and whole‐exome sequencing were used.
        explanation: >-
          This directly supports exome sequencing in the diagnostic workup.
  - name: Chromosomal Microarray or Array CGH
    description: >-
      Copy-number analysis is relevant for the distal 15q dosage-gain subtype,
      where trisomy or tetrasomy of distal chromosome 15q is causative.
    diagnosis_term:
      preferred_term: molecular genetic testing
      term:
        id: MAXO:0000533
        label: molecular genetic testing
    evidence:
      - reference: DOI:10.1002/ajmg.a.32534
        reference_title: >-
          15q overgrowth syndrome: A newly recognized phenotype associated with
          overgrowth, learning difficulties, characteristic facial appearance,
          renal anomalies and increased dosage of distal chromosome 15q
        supports: SUPPORT
        snippet: >-
          We provide further support for a distinct “15q overgrowth syndrome”
          caused by either trisomy or tetrasomy resulting in increased dosage
          of distal 15q.
        explanation: >-
          This supports diagnostic copy-number testing for the distal 15q
          dosage-gain subtype.
  - name: Renal Imaging Evaluation
    description: >-
      Renal imaging is clinically relevant because congenital renal anomalies
      are a major feature of the syndrome.
    diagnosis_term:
      preferred_term: diagnostic procedure
      term:
        id: MAXO:0000003
        label: diagnostic procedure
    evidence:
      - reference: DOI:10.1002/ajmg.a.32534
        reference_title: >-
          15q overgrowth syndrome: A newly recognized phenotype associated with
          overgrowth, learning difficulties, characteristic facial appearance,
          renal anomalies and increased dosage of distal chromosome 15q
        supports: SUPPORT
        snippet: >-
          In addition we propose that renal anomalies and a distinctive facial
          appearance be considered major features of this condition.
        explanation: >-
          This supports explicit renal evaluation as part of syndrome
          recognition and workup.
genetic:
  - name: IGF1R
    gene_term:
      preferred_term: IGF1R
      term:
          id: hgnc:5465
          label: IGF1R
    association: Contributes to disease susceptibility
    notes: >-
      Increased dosage of distal 15q, often including IGF1R, defines a major
      chromosomal subtype of the syndrome.
    evidence:
      - reference: DOI:10.1002/ajmg.a.32534
        reference_title: >-
          15q overgrowth syndrome: A newly recognized phenotype associated with
          overgrowth, learning difficulties, characteristic facial appearance,
          renal anomalies and increased dosage of distal chromosome 15q
        supports: SUPPORT
        snippet: >-
          We provide further support for a distinct “15q overgrowth syndrome”
          caused by either trisomy or tetrasomy resulting in increased dosage
          of distal 15q.
        explanation: >-
          This supports a chromosomal dosage-gain etiology involving distal 15q
          genes, often including IGF1R.
  - name: FIBP
    gene_term:
      preferred_term: FIBP
      term:
          id: hgnc:3705
          label: FIBP
    association: Causal mutations reported
    notes: >-
      Biallelic FIBP variants cause the autosomal recessive subtype overlapping
      this MONDO syndrome concept.
    evidence:
      - reference: DOI:10.1002/ajmg.a.37741
        reference_title: >-
          A recessive syndrome of intellectual disability, moderate overgrowth,
          and renal dysplasia predisposing to Wilms tumor is caused by a
          mutation in<i>FIBP</i>gene
        supports: SUPPORT
        snippet: >-
          The disease was mapped to 3p21.1‐p14.2 and 11q13.1‐q13.4, where an
          in‐frame insertion (c.175_176insTAA) inFIBPgene was revealed.
        explanation: >-
          This directly supports FIBP as the causal gene in a syndromic
          overgrowth subtype matching this MONDO concept.
environmental: []
treatments:
  - name: Genetic counseling
    description: >-
      Genetic counseling is appropriate because the syndrome includes both
      chromosomal dosage-gain and autosomal recessive FIBP-related subtypes.
    treatment_term:
      preferred_term: genetic counseling
      term:
        id: MAXO:0000079
        label: genetic counseling
    evidence:
      - reference: DOI:10.1002/ajmg.a.37741
        reference_title: >-
          A recessive syndrome of intellectual disability, moderate overgrowth,
          and renal dysplasia predisposing to Wilms tumor is caused by a
          mutation in<i>FIBP</i>gene
        supports: SUPPORT
        snippet: >-
          Here, we have identified the genetic etiology and the pathogenetic
          mechanism underlying a rare autosomal recessive overgrowth syndrome in
          three affected siblings.
        explanation: >-
          Establishing an autosomal recessive etiology supports family genetic
          counseling for the FIBP-related subtype.
  - name: Multidisciplinary long-term follow-up
    description: >-
      Multidisciplinary follow-up is relevant for TROFAS because later reports
      have broadened the subtype phenotype to include ophthalmologic,
      airway, skeletal, and cardiac manifestations.
    treatment_term:
      preferred_term: supportive care
      term:
        id: MAXO:0000950
        label: supportive care
    evidence:
      - reference: DOI:10.1007/s13353-025-00984-2
        reference_title: >-
          A patient with Thauvin-Robinet-Faivre syndrome caused by a novel
          homozygous FIBP variant and new clinical findings
        supports: SUPPORT
        snippet: >-
          The findings significantly broaden the phenotypic landscape of TROFAS
          and underscore the need for multidisciplinary management and
          long-term follow-up.
        explanation: >-
          This directly supports multidisciplinary management and long-term
          follow-up for the FIBP/TROFAS subtype.
differential_diagnoses:
  - name: Sotos syndrome
    description: >-
      A major overgrowth-intellectual disability differential diagnosis.
    distinguishing_features:
      - NSD1-related disease has a distinct molecular etiology from distal 15q dosage gain or FIBP-related TROFAS.
  - name: Weaver syndrome
    description: >-
      An EZH2-related overgrowth syndrome that overlaps clinically with tall
      stature and neurodevelopmental impairment.
    distinguishing_features:
      - Molecular testing distinguishes EZH2-related overgrowth from distal 15q dosage gain and FIBP-related disease.
  - name: Simpson-Golabi-Behmel syndrome
    description: >-
      A syndromic overgrowth differential with renal and tumor-predisposition
      overlap.
    distinguishing_features:
      - GPC3-related X-linked inheritance and characteristic congenital anomalies distinguish it from this syndrome.
clinical_trials: []
datasets: []
notes: >-
  Falcon deep research and the primary literature indicate that this MONDO
  label currently behaves as a heterogeneous syndrome concept rather than a
  single molecular entity. The best-supported subtype branches in the available
  literature are distal 15q dosage-gain overgrowth syndrome and FIBP-related
  Thauvin-Robinet-Faivre syndrome.
📚

References & Deep Research

Deep Research

1
Falcon ▸
Tall Stature–Intellectual Disability–Renal Anomalies Syndrome (Developmental Disorder): Comprehensive Research Report
Edison Scientific Literature 26 citations 2026-04-23T18:48:15.351786

Tall Stature–Intellectual Disability–Renal Anomalies Syndrome (Developmental Disorder): Comprehensive Research Report

Executive summary (current understanding)

The label “Tall stature–intellectual disability–renal anomalies syndrome” is not consistently used as a single standardized nosologic entity in the literature retrieved here. The best-supported match in primary sources is “15q overgrowth syndrome” (also described as distal 15q duplication/trisomy/tetrasomy), a copy-number gain of distal chromosome 15q often encompassing IGF1R, producing a recognizable syndrome of postnatal overgrowth/tall stature, learning difficulties/intellectual disability, characteristic facial gestalt, and frequent renal anomalies. (tatton‐brown200915qovergrowthsyndrome pages 1-2, tatton‐brown200915qovergrowthsyndrome pages 5-6, tatton‐brown200915qovergrowthsyndrome pages 6-8)

A genetically distinct but phenotypically overlapping disorder is FIBP-related Thauvin–Robinet–Faivre syndrome (TROFAS/TRFS), an autosomal recessive syndromic overgrowth condition with intellectual disability, renal anomalies/renal dysplasia, and reported Wilms tumor predisposition. (akawi2016arecessivesyndrome pages 3-5, cosentino2025expandingtheknowledge pages 1-3)

Because the requested disease name appears to be a phenotype label rather than a single curated ontology entry in the retrieved set, this report is structured around these two evidence-supported entities.

Entity/synonyms Genetic etiology Key renal findings Key neurodevelopmental/growth findings Key statistics/frequencies Key references with year, journal, DOI/URL
15q overgrowth syndrome; distal 15q duplication/trisomy/tetrasomy; “15q OGS”; phenotype corresponding to a tall stature–intellectual disability–renal anomalies presentation in the evidence Increased dosage of distal chromosome 15q (duplication/triplication/tetrasomy; often 15q25.3–q26.3 / 15q26.1-qter), frequently including IGF1R; mechanism supported by increased IGF1R dosage/expression and downstream growth signaling (tatton‐brown200915qovergrowthsyndrome pages 1-2, tatton‐brown200915qovergrowthsyndrome pages 4-5, cannarella2017chromosome15structural pages 1-2, tatton‐brown200915qovergrowthsyndrome pages 6-8, bodle2019acuteleukemiain pages 1-2) Renal anomalies reported include horseshoe kidney, renal agenesis, hydronephrosis, vesico-ureteric reflux, polycystic kidney, right pelvic duplication (tatton‐brown200915qovergrowthsyndrome pages 5-6) Postnatal overgrowth/tall stature, learning difficulties/intellectual disability, characteristic facial gestalt (long/thin face, prominent chin/nose, broad nasal bridge, high anterior hairline/dolichocephaly); additional reported findings include hypotonia, seizures/autism in some cases, scoliosis, hearing loss, cardiac anomalies, craniosynostosis, genital/gonadal anomalies (tatton‐brown200915qovergrowthsyndrome pages 2-4, tatton‐brown200915qovergrowthsyndrome pages 6-8, cannarella2017chromosome15structural pages 1-2, bodle2019acuteleukemiain pages 1-2) Trisomy 15q: 71% (12/17) overgrown, 100% (17/17) learning difficulties, 94% (16/17) characteristic facial appearance; tetrasomy 15q: 100% (4/4) overgrowth and 100% (5/5) learning difficulties; renal anomalies identified in 45% (5/11) of trisomy cases investigated and 80% (4/5) of tetrasomy cases investigated; in the 2009 series, 3/5 cases had renal anomalies (tatton‐brown200915qovergrowthsyndrome pages 6-8, tatton‐brown200915qovergrowthsyndrome pages 5-6) Tatton-Brown et al., 2009, Am J Med Genet A, DOI: 10.1002/ajmg.a.32534 / https://doi.org/10.1002/ajmg.a.32534 (tatton‐brown200915qovergrowthsyndrome pages 1-2, tatton‐brown200915qovergrowthsyndrome pages 6-8); Cannarella et al., 2017, Endocrine Connections, DOI: 10.1530/EC-17-0158 / https://doi.org/10.1530/ec-17-0158 (cannarella2017chromosome15structural pages 1-2); Bodle et al., 2019, Am J Med Genet A, DOI: 10.1002/ajmg.a.61115 / https://doi.org/10.1002/ajmg.a.61115 (bodle2019acuteleukemiain pages 2-3, bodle2019acuteleukemiain pages 1-2)
FIBP-related Thauvin–Robinet–Faivre syndrome; recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor; overlapping tall stature–intellectual disability–renal anomalies phenotype Autosomal recessive, caused by biallelic FIBP variants on chromosome 11q13.1; reported variants in the evidence include c.175_176insTAA / p.His59delinsLeuAsn (p.H59LN) and c.652C>T / p.Gln218*; FIBP encodes an intracellular acidic FGF-binding protein (akawi2016arecessivesyndrome pages 1-2, akawi2016arecessivesyndrome pages 3-5, cosentino2025expandingtheknowledge pages 6-7, cosentino2025expandingtheknowledge pages 1-3, akawi2016arecessivesyndrome pages 2-3) Renal dysplasia, nephromegaly, bilateral cystic dysplastic kidneys with non-functioning kidney, renal malrotation, left bifid ureter, simple renal cyst, and predisposition to Wilms tumor; prenatal ultrasound may show cystic dysplastic kidneys (akawi2016arecessivesyndrome pages 3-5, akawi2016arecessivesyndrome pages 2-3) Moderate/generalized overgrowth or tall stature, intellectual disability/developmental delay/learning disability, macrocephaly in some reports, facial dysmorphism; additional anomalies reported include hearing loss, ocular anomalies, cardiac defects, skeletal/orthopedic abnormalities; patient fibroblasts showed increased proliferation in supporting studies (akawi2016arecessivesyndrome pages 2-3, akawi2016arecessivesyndrome pages 3-5, cosentino2025expandingtheknowledge pages 1-3, akawi2016arecessivesyndrome pages 7-8) No population-level prevalence estimates in the provided snippets; evidence is from small families/case reports. In one consanguineous family, 3 affected siblings were described; one had stage III Wilms tumor, one had cystic dysplastic kidneys/nephromegaly, and one had normal kidneys, indicating variable expressivity/intrafamilial heterogeneity (akawi2016arecessivesyndrome pages 3-5, akawi2016arecessivesyndrome pages 7-8, akawi2016arecessivesyndrome pages 2-3) Akawi et al., 2016, Am J Med Genet A, DOI: 10.1002/ajmg.a.37741 / https://doi.org/10.1002/ajmg.a.37741 (akawi2016arecessivesyndrome pages 2-3, akawi2016arecessivesyndrome pages 1-2, akawi2016arecessivesyndrome pages 3-5); Cosentino et al., 2025, Journal of Applied Genetics, DOI: 10.1007/s13353-025-00984-2 / https://doi.org/10.1007/s13353-025-00984-2 (cosentino2025expandingtheknowledge pages 6-7, cosentino2025expandingtheknowledge pages 1-3)

Table: This table maps the label 'Tall stature–intellectual disability–renal anomalies syndrome' to the two evidence-supported entities that best match it in the retrieved literature. It highlights the distinction between the chromosomal 15q overgrowth syndrome and the monogenic FIBP-related Thauvin–Robinet–Faivre syndrome.

1. Disease information

1.1 Concise overview

15q overgrowth syndrome (distal 15q duplication/trisomy/tetrasomy) is a cytogenomic overgrowth syndrome characterized by overgrowth/tall stature, learning difficulties/intellectual disability, Sotos-like facial gestalt, and renal anomalies, caused by increased dosage of distal 15q (duplication/triplication/tetrasomy). (tatton‐brown200915qovergrowthsyndrome pages 1-2, tatton‐brown200915qovergrowthsyndrome pages 5-6, tatton‐brown200915qovergrowthsyndrome pages 6-8)

FIBP-related Thauvin–Robinet–Faivre syndrome (TROFAS/TRFS) is an autosomal recessive syndromic overgrowth disorder caused by biallelic loss-of-function variants in FIBP (chr11q13.1), with intellectual disability, overgrowth, and renal anomalies/renal dysplasia; renal disease may be severe and has been reported to predispose to Wilms tumor. (akawi2016arecessivesyndrome pages 3-5, akawi2016arecessivesyndrome pages 2-3, cosentino2025expandingtheknowledge pages 1-3)

1.2 Key identifiers (OMIM/Orphanet/ICD/MeSH/MONDO)

The retrieved full-text excerpts do not provide MONDO, Orphanet, MeSH, ICD-10/ICD-11, or OMIM identifiers for “15q overgrowth syndrome” or for “Tall stature–intellectual disability–renal anomalies syndrome” as a single named entity. Therefore, identifiers cannot be asserted from the current tool-accessed evidence without external database lookups. (tatton‐brown200915qovergrowthsyndrome pages 5-6, tatton‐brown200915qovergrowthsyndrome pages 6-8)

However, Tatton-Brown et al. provide an OMIM-based differential diagnosis table (e.g., Sotos syndrome OMIM 117550; Weaver syndrome OMIM 277590), demonstrating the clinical overlap space in which 15q overgrowth syndrome is considered. (tatton‐brown200915qovergrowthsyndrome pages 6-8)

1.3 Synonyms / alternative names (from evidence)

  • 15q overgrowth syndrome, 15q OGS, distal 15q duplication/trisomy/tetrasomy phenotypes. (bodle2019acuteleukemiain pages 1-2, tatton‐brown200915qovergrowthsyndrome pages 5-6)
  • For the monogenic overlapping entity: Thauvin–Robinet–Faivre syndrome (TROFAS/TRFS); “recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor” caused by FIBP variants. (akawi2016arecessivesyndrome pages 2-3, cosentino2025expandingtheknowledge pages 1-3)

1.4 Evidence source types

  • Human clinical cytogenetics/case series: 15q overgrowth syndrome characterization and pooled frequencies. (tatton‐brown200915qovergrowthsyndrome pages 5-6, tatton‐brown200915qovergrowthsyndrome pages 6-8)
  • Human case report with molecular cytogenetics and clinical course: adult with 15q OGS and mixed phenotype acute leukemia. (bodle2019acuteleukemiain pages 1-2)
  • Human Mendelian family study (WES + homozygosity mapping): FIBP-related syndromic overgrowth with renal dysplasia/Wilms tumor. (akawi2016arecessivesyndrome pages 3-5)
  • Recent review (2024) on overgrowth mechanisms and omics diagnostics: emphasizes NGS/omics and diagnostic challenges. (prawitt2024molecularmechanismsof pages 1-2)

2. Etiology

2.1 Disease causal factors

2.1.1 15q overgrowth syndrome

Primary cause: copy-number gain of distal 15q (duplication/triplication/tetrasomy), frequently including IGF1R. (tatton‐brown200915qovergrowthsyndrome pages 4-5, tatton‐brown200915qovergrowthsyndrome pages 5-6, bodle2019acuteleukemiain pages 1-2)

Mechanistic gene-dosage hypothesis is supported by Tatton-Brown et al.: “Increased dosage of IGF1R, through duplication or triplication of the 15q26.1-qter region, could therefore lead to overgrowth.” (tatton‐brown200915qovergrowthsyndrome pages 6-8)

2.1.2 FIBP-related Thauvin–Robinet–Faivre syndrome

Primary cause: biallelic FIBP loss-of-function (autosomal recessive). (akawi2016arecessivesyndrome pages 3-5, cosentino2025expandingtheknowledge pages 1-3)

Akawi et al. explicitly frame the entity as a Mendelian syndrome: “A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to wilms tumor is caused by a mutation in fibp gene.” (title-level statement in the full text excerpt context). (akawi2016arecessivesyndrome pages 2-3)

2.2 Risk factors / protective factors / gene–environment interactions

No evidence in the retrieved texts supports environmental risk factors, protective factors, or gene–environment interactions for either entity. The disorders are currently best supported as genetic with variable expressivity. (tatton‐brown200915qovergrowthsyndrome pages 5-6, akawi2016arecessivesyndrome pages 2-3)

3. Phenotypes

3.1 Core phenotype set: 15q overgrowth syndrome (distal 15q duplication)

3.1.1 Growth/overgrowth

  • Tall stature / overgrowth (HPO: HP:0000098 Tall stature, HP:0004322 Accelerated growth, HP:0001518 Overgrowth)
  • Frequency (pooled): 71% (12/17) overgrown among trisomy 15q cases; 100% (4/4) overgrowth among reported tetrasomy 15q cases. (tatton‐brown200915qovergrowthsyndrome pages 6-8)

3.1.2 Neurodevelopment

  • Learning difficulties / intellectual disability (HPO: HP:0001249 Intellectual disability, HP:0001263 Global developmental delay, HP:0000750 Delayed speech and language development)
  • Frequency (pooled): 100% (17/17) learning difficulties in trisomy 15q series; 100% (5/5) learning difficulties in reported tetrasomy cases. (tatton‐brown200915qovergrowthsyndrome pages 6-8)

3.1.3 Facial gestalt / dysmorphism

  • “Sotos-like” facial appearance; long/thin face, prominent chin/nose, broad nasal bridge, high anterior hairline; dolichocephaly. (HPO examples: HP:0000307 Dolichocephaly, HP:0000303 Prominent forehead, HP:0000308 Brachycephaly (if present in individuals), HP:0000347 Micrognathia (reported in some distal 15q duplication descriptions)) (tatton‐brown200915qovergrowthsyndrome pages 2-4, tatton‐brown200915qovergrowthsyndrome pages 5-6, tatton‐brown200915qovergrowthsyndrome pages 6-8)
  • Frequency (pooled): 94% (16/17) characteristic facial appearance in trisomy 15q cases; 100% (8/8) in reported tetrasomy cases (facial gestalt). (tatton‐brown200915qovergrowthsyndrome pages 6-8)

3.1.4 Renal anomalies

  • Specific anomalies reported: horseshoe kidney, renal agenesis, hydronephrosis, vesico-ureteric reflux, polycystic kidney, right pelvic duplication. (HPO examples: HP:0000085 Horseshoe kidney, HP:0000104 Renal agenesis, HP:0000126 Hydronephrosis, HP:0000076 Vesicoureteral reflux, HP:0000110 Renal dysplasia (if dysplasia documented), HP:0000107 Renal cyst) (tatton‐brown200915qovergrowthsyndrome pages 5-6)
  • Frequency (pooled, among those investigated): 45% (5/11) of 15q trisomy cases and 80% (4/5) of 15q tetrasomy cases had renal anomalies when renal investigations were performed; in the authors’ cohort, 3/5 had renal anomalies. (tatton‐brown200915qovergrowthsyndrome pages 5-6)

3.1.5 Other commonly reported features (variable)

  • Seizures, autism, hypotonia (tatton‐brown200915qovergrowthsyndrome pages 5-6)
  • Scoliosis, craniosynostosis, hearing loss, genital abnormalities, minor cardiac anomalies. (bodle2019acuteleukemiain pages 1-2)

3.2 Core phenotype set: FIBP-related Thauvin–Robinet–Faivre syndrome

3.2.1 Growth/overgrowth

  • Overgrowth primarily in height/tall stature (HPO: HP:0000098 Tall stature, HP:0001518 Overgrowth) (akawi2016arecessivesyndrome pages 3-5)

3.2.2 Neurodevelopment

  • Developmental delay / learning disability / intellectual disability (HPO: HP:0001263 Global developmental delay, HP:0001249 Intellectual disability) (akawi2016arecessivesyndrome pages 3-5)

3.2.3 Renal anomalies / renal dysplasia and complications

  • Prenatal cystic dysplastic kidneys (akawi2016arecessivesyndrome pages 3-5)
  • Nephromegaly, bilateral cystic dysplastic kidneys, non-functioning kidney; renal malrotation; bifid ureter. (HPO: HP:0000110 Renal dysplasia, HP:0000107 Renal cyst, HP:0000125 Nephromegaly, HP:0000083 Renal malrotation, HP:0000072 Ureteral duplication) (akawi2016arecessivesyndrome pages 3-5)
  • Severe neonatal renal failure and early mortality have been reported: “Half of the reported cases die in the first few days of life mainly due to renal failure.” (akawi2016arecessivesyndrome pages 2-3)

3.2.4 Tumor predisposition

  • Wilms tumor observed in an affected child (stage III in Akawi family). (HPO: HP:0002667 Wilms tumor) (akawi2016arecessivesyndrome pages 3-5)
  • Cosentino et al. (2025) also state increased risk for Wilms tumor in TROFAS (but detailed risk quantification is not available in the provided excerpt). (cosentino2025expandingtheknowledge pages 1-3)

3.2.5 Additional manifestations (emerging)

  • Hearing loss and ocular abnormalities appear in the Akawi family. (akawi2016arecessivesyndrome pages 3-5)
  • 2025 phenotype expansion includes conduction disease/AV block, ophthalmologic inflammation (uveitis), orthopedic findings, and a recommendation for surveillance (see Treatment/Management). (cosentino2025expandingtheknowledge pages 5-6)

3.3 Quality-of-life impact

No disease-specific QoL instruments (EQ-5D/SF-36/PROMIS) were retrieved for these entities. Given core neurodevelopmental disability and potential renal disease, QoL burden is expected to be substantial, but this cannot be quantified from the current evidence set.

4. Genetic / molecular information

4.1 Causal genes / loci

  • 15q overgrowth syndrome: distal 15q copy-number gain (often 15q25.3–15q26.3), frequently including IGF1R. Bodle et al. report a case with aCGH result [hg19: 15q25.3q26.3(88802919–102383473) × 3] including IGF1R (and ≥71 genes). (bodle2019acuteleukemiain pages 1-2)
  • FIBP-related TROFAS: FIBP (chr11q13.1). (cosentino2025expandingtheknowledge pages 1-3)

4.2 Pathogenic variants / variant classes

  • 15q overgrowth syndrome: structural variants / CNVs (duplications/triplications/tetrasomy), including small “pure” duplications (e.g., 568 kb 15q26.3 duplication) and larger trisomies. (cannarella2017chromosome15structural pages 1-2, bodle2019acuteleukemiain pages 1-2)
  • FIBP-related TROFAS: biallelic variants including an in-frame insertion NM_198897.1:c.175_176insTAA; p.His59delinsLeuAsn (Akawi family), and truncating variants in later case reports (compound heterozygous p.Arg335 and p.Ser166 in Cosentino case). (akawi2016arecessivesyndrome pages 3-5, cosentino2025expandingtheknowledge pages 1-3)

4.3 Inheritance, penetrance, expressivity

  • 15q overgrowth syndrome: typically de novo or inherited chromosomal rearrangements causing distal 15q dosage gain; expressivity varies and can be influenced by breakpoints/position effects. Cannarella et al. discuss breakpoint-dependent regulation: genotype–phenotype discordance may arise when a breakpoint juxtaposes IGF1R to an active promoter or disrupts regulatory sequences. (cannarella2017chromosome15structural pages 5-6)
  • FIBP-related TROFAS: autosomal recessive, with variable renal involvement even within a family (one child with Wilms tumor, another with dysplastic kidneys, another with normal kidneys), indicating variable expressivity. (akawi2016arecessivesyndrome pages 7-8)

4.4 Population allele frequencies

No gnomAD/ExAC allele-frequency data were available in the retrieved excerpts; therefore, allele frequencies cannot be provided here.

5. Environmental information

No environmental, lifestyle, or infectious causal triggers were supported by the retrieved texts. These disorders are best supported as genetic. (tatton‐brown200915qovergrowthsyndrome pages 5-6, akawi2016arecessivesyndrome pages 2-3)

6. Mechanism / pathophysiology

6.1 15q overgrowth syndrome: IGF1R dosage and growth pathways

Tatton-Brown et al. describe IGF1R-mediated growth signaling: binding of IGF1/IGF2 to IGF1R triggers autophosphorylation and PI3K/mTOR pathway activation “a key pathway involved in cell growth and proliferation.” (tatton‐brown200915qovergrowthsyndrome pages 5-6)

They explicitly propose a dosage mechanism: “Increased dosage of IGF1R, through duplication or triplication of the 15q26.1-qter region, could therefore lead to overgrowth.” (tatton‐brown200915qovergrowthsyndrome pages 6-8)

Functional support cited in the text includes increased proliferation and IGF1R autophosphorylation in fibroblasts with IGF1R duplication (Okubo et al. 2003 as cited). (tatton‐brown200915qovergrowthsyndrome pages 6-8)

Ontology suggestions (mechanism): - GO Biological Process: PI3K signaling (GO:0014065); mTOR signaling (GO:0031929); cell proliferation (GO:0008283). - Cell types (CL): plausible key responders include fibroblast (CL:0000057) (directly referenced in fibroblast functional observations), and growth-responsive lineages broadly.

6.2 FIBP-related TROFAS: FGF signaling and proliferation

FIBP encodes an intracellular FGF-binding protein, and loss-of-function is linked to dysregulated growth control. Akawi et al. report increased cellular proliferation in patient fibroblasts and strong embryonic expression in developing kidney/neural tissues (mouse expression work described in the paper). (akawi2016arecessivesyndrome pages 7-8)

Cosentino et al. summarize that FIBP “modulates cell proliferation, differentiation, and survival,” and note that loss-of-function variants lead to dysregulated signaling with implications for Wilms tumor predisposition. (cosentino2025expandingtheknowledge pages 6-7)

Ontology suggestions (mechanism): - GO Biological Process: fibroblast growth factor receptor signaling pathway (GO:0008543); regulation of cell proliferation (GO:0042127); kidney development (GO:0001822). - Cell types (CL): metanephric mesenchyme cell (CL:0002297) / nephrogenic precursors (conceptually relevant to renal dysplasia), and fibroblast (CL:0000057) for functional assays.

7. Anatomical structures affected

7.1 Organ/system level

  • Kidney/urinary system (UBERON: kidney UBERON:0002113; ureter UBERON:0001222) due to congenital anomalies (horseshoe kidney, agenesis, hydronephrosis, renal dysplasia). (tatton‐brown200915qovergrowthsyndrome pages 5-6, akawi2016arecessivesyndrome pages 3-5)
  • Central nervous system (UBERON: brain UBERON:0000955) due to neurodevelopmental disability. (tatton‐brown200915qovergrowthsyndrome pages 6-8, akawi2016arecessivesyndrome pages 3-5)
  • Skeletal system (e.g., scoliosis/orthopedic findings) in some cases. (bodle2019acuteleukemiain pages 1-2, cosentino2025expandingtheknowledge pages 5-6)

7.2 Subcellular / molecular localization

  • IGF1R is a membrane receptor tyrosine kinase; FIBP is intracellular. These are molecular-localization facts implied by receptor biology and FIBP function in the retrieved sources. (cannarella2017chromosome15structural pages 1-2, cosentino2025expandingtheknowledge pages 6-7)

8. Temporal development (onset and progression)

8.1 15q overgrowth syndrome

Typically features are apparent in childhood due to overgrowth and developmental delay/learning difficulties. Renal anomalies may be congenital and detected via imaging; Tatton-Brown et al. include prenatal/postnatal findings across reported cases. (tatton‐brown200915qovergrowthsyndrome pages 5-6)

8.2 FIBP-related TROFAS

  • Can present prenatally with cystic dysplastic kidneys and in early childhood with overgrowth and developmental delay. (akawi2016arecessivesyndrome pages 3-5)
  • Severe neonatal renal failure and early death reported in some cases. (akawi2016arecessivesyndrome pages 2-3)

9. Inheritance and population

9.1 Epidemiology

No prevalence/incidence estimates were identified in the retrieved texts for either entity; both are described as rare with small numbers of reported individuals. (cannarella2017chromosome15structural pages 1-2, bodle2019acuteleukemiain pages 2-3)

9.2 Inheritance

  • 15q overgrowth syndrome: chromosomal rearrangements leading to distal 15q dosage gain; may be de novo or familial (e.g., pericentric inversion-related). (tatton‐brown200915qovergrowthsyndrome pages 6-8)
  • FIBP-related TROFAS: autosomal recessive, often in consanguineous families. (akawi2016arecessivesyndrome pages 3-5)

10. Diagnostics

10.1 Clinical recognition and differential diagnosis

Tatton-Brown et al. emphasize clinical similarity to Sotos syndrome and recommend considering distal 15q duplication in Sotos-like cases without NSD1 abnormalities: “We therefore suggest that the 15q overgrowth syndrome be considered in those cases with a clinical diagnosis of Sotos syndrome without an associated abnormality of NSD1 and that investigation of the 15q telomere be undertaken.” (tatton‐brown200915qovergrowthsyndrome pages 5-6)

Differentials explicitly listed include Sotos, Weaver, Bannayan–Riley–Ruvalcaba, Simpson–Golabi–Behmel. (tatton‐brown200915qovergrowthsyndrome pages 5-6)

10.2 Genetic testing approaches (real-world implementations)

15q overgrowth syndrome: - Cytogenomic approaches are central; Bodle et al. report array comparative genomic hybridization confirming distal 15q trisomy with coordinates and IGF1R inclusion. (bodle2019acuteleukemiain pages 1-2) - Cannarella et al. evaluate small duplications using array-CGH and quantify IGF1R mRNA/protein changes in selected cases. (cannarella2017chromosome15structural pages 1-2)

FIBP-related TROFAS: - Akawi et al.: homozygosity mapping + whole-exome sequencing + Sanger confirmation in a consanguineous family. (akawi2016arecessivesyndrome pages 2-3) - Cosentino et al. (2025) diagnostic workflow: karyotype, targeted FISH, and exome sequencing identifying compound heterozygous truncating variants. (cosentino2025expandingtheknowledge pages 1-3)

Latest research / 2024 diagnostic perspective (omics): Prawitt & Eggermann (2024) summarize emerging omics and emphasize early molecular testing: “Physicians should consider molecular genetic testing as a first diagnostic step in overgrowth syndromes.” (prawitt2024molecularmechanismsof pages 1-2)

Abolhassani et al. (2024) provide a concrete, contemporary clinical NGS pipeline and performance metrics (though not syndrome-specific), including mean depth 126× for exomes and 522× for panels and ACMG/AMP classification practices. (abolhassani2024clinicalapplicationof pages 9-10)

11. Outcome / prognosis

11.1 15q overgrowth syndrome

  • Neurodevelopmental outcome includes persistent learning difficulties/intellectual disability, with variable severity. (tatton‐brown200915qovergrowthsyndrome pages 5-6)
  • Malignancy risk is uncertain due to small numbers; Bodle et al. report leukemia in a 34-year-old with 15q OGS and note limited reported malignancies. (bodle2019acuteleukemiain pages 2-3)

11.2 FIBP-related TROFAS

  • Potential for severe neonatal renal failure with early mortality: “Half of the reported cases die in the first few days of life mainly due to renal failure.” (akawi2016arecessivesyndrome pages 2-3)
  • Wilms tumor risk is reported (case-level) and cited as a concern in later reviews/case reports. (akawi2016arecessivesyndrome pages 3-5, cosentino2025expandingtheknowledge pages 1-3)

12. Treatment / management

12.1 Disease-modifying therapy

No disease-specific pharmacotherapies or gene-targeted therapies were identified in the retrieved sources.

12.2 Supportive care and surveillance (real-world implementation)

15q overgrowth syndrome: - No standardized surveillance protocol is provided in the retrieved excerpts. However, because renal anomalies are frequent and considered a “major feature,” baseline and follow-up renal evaluation is clinically reasonable, but specific schedules are not evidence-specified here. (tatton‐brown200915qovergrowthsyndrome pages 5-6)

FIBP-related TROFAS: - Cosentino et al. (2025) explicitly advocate broad longitudinal surveillance: “Establishing comprehensive surveillance protocols, including musculoskeletal evaluations, cardiology assessments, pulmonary function monitoring, and ophthalmologic screenings...” (cosentino2025expandingtheknowledge pages 5-6) - They highlight cardiac conduction disease as clinically critical: “(AV) block requiring pacemaker implantation is a particularly critical finding,” motivating “serial electrocardiographic and echocardiographic evaluations.” (cosentino2025expandingtheknowledge pages 5-6)

MAXO term suggestions (supportive actions): - Renal imaging surveillance: MAXO:0000832 (Ultrasonography) (for kidney ultrasound). - Developmental interventions: MAXO:0001074 (Speech therapy); MAXO:0000727 (Occupational therapy); MAXO:0000513 (Physical therapy). - Cardiac monitoring (TROFAS): MAXO:0000537 (Electrocardiography); MAXO:0000470 (Echocardiography).

12.3 Clinical trials

The clinical-trials search did not identify syndrome-specific interventional trials relevant to this rare developmental disorder in the current retrieval state. (clinical trials tool result: no relevant trials)

13. Prevention

Primary prevention is not established for these genetic conditions. Secondary prevention may involve genetic counseling (especially for autosomal recessive FIBP-related disease) and prenatal/preimplantation options, but such guidelines were not present in retrieved excerpts.

14–15. Other species / model organisms

Akawi et al. include mouse embryonic expression evidence for Fibp in developing kidney and neural tissues (supporting biological plausibility), but no dedicated disease model organisms are described in the retrieved excerpts. (akawi2016arecessivesyndrome pages 7-8)

Recent developments and latest research (prioritizing 2023–2024)

  1. Omics-first diagnostic framing for overgrowth syndromes (2024): Prawitt & Eggermann (Frontiers in Genetics, 2024-06; https://doi.org/10.3389/fgene.2024.1382371) emphasize early molecular genetic testing and integration of NGS and other omics to confirm diagnoses and expand phenotype spectra: “Physicians should consider molecular genetic testing as a first diagnostic step in overgrowth syndromes.” (prawitt2024molecularmechanismsof pages 1-2)
  2. Operationalized clinical NGS pipelines (2024): Abolhassani et al. (NPJ Genomic Medicine, 2024-02; https://doi.org/10.1038/s41525-024-00393-0) describe large-scale real-world ES/panel testing with explicit sequencing depths, variant filtering against gnomAD/Iranome, and ACMG/AMP + ClinGen-guided classification, which is directly applicable to diagnosing monogenic overgrowth/ID syndromes such as FIBP-related TROFAS. (abolhassani2024clinicalapplicationof pages 9-10)
  3. Emerging phenotype expansions in FIBP-related disease (2023–2024 referenced in 2025 review): Although the key phenotype-expansion case report retrieved is 2025, it explicitly cites 2023–2024 literature reporting additional manifestations (e.g., inflammatory eye disease) and novel variants, indicating rapid ongoing delineation of TROFAS. (cosentino2025expandingtheknowledge pages 6-7)

Key statistics (from recent and classic studies)

  • 15q overgrowth syndrome (pooled literature as of 2009): overgrowth 71% (12/17), learning difficulties 100% (17/17), characteristic facial appearance 94% (16/17); renal anomalies in investigated cases 45% (5/11) for trisomy and 80% (4/5) for tetrasomy. (tatton‐brown200915qovergrowthsyndrome pages 5-6)
  • FIBP-related syndrome (case-based): severe renal outcomes may be common among early reports: “Half of the reported cases die in the first few days of life mainly due to renal failure.” (akawi2016arecessivesyndrome pages 2-3)

Limitations of this report

  • Ontology identifiers (MONDO/Orphanet/MeSH/ICD) for the target disease name were not recoverable from the retrieved literature excerpts and therefore are not provided.
  • Some requested elements (population prevalence, formal surveillance schedules, variant population frequencies, ClinVar/ClinGen summaries) require database queries beyond the papers available in the current tool state.

Primary sources (URLs; publication dates)

  • Tatton-Brown K. et al. Am J Med Genet A (2009-02): “15q overgrowth syndrome...” https://doi.org/10.1002/ajmg.a.32534 (tatton‐brown200915qovergrowthsyndrome pages 1-2, tatton‐brown200915qovergrowthsyndrome pages 5-6, tatton‐brown200915qovergrowthsyndrome pages 6-8)
  • Cannarella R. et al. Endocrine Connections (2017-10): “Chromosome 15 structural abnormalities: effect on IGF1R gene expression and function” https://doi.org/10.1530/ec-17-0158 (cannarella2017chromosome15structural pages 1-2)
  • Bodle E.E. et al. Am J Med Genet A (2019-06; accepted 2018-11-05): “Acute leukemia in a patient with 15q overgrowth syndrome” https://doi.org/10.1002/ajmg.a.61115 (bodle2019acuteleukemiain pages 1-2)
  • Akawi N. et al. Am J Med Genet A (2016-05): FIBP-related recessive overgrowth/ID/renal dysplasia https://doi.org/10.1002/ajmg.a.37741 (akawi2016arecessivesyndrome pages 3-5)
  • Prawitt D., Eggermann T. Frontiers in Genetics (2024-06): omics diagnostics in overgrowth https://doi.org/10.3389/fgene.2024.1382371 (prawitt2024molecularmechanismsof pages 1-2)
  • Abolhassani A. et al. NPJ Genomic Medicine (2024-02): clinical NGS implementation https://doi.org/10.1038/s41525-024-00393-0 (abolhassani2024clinicalapplicationof pages 9-10)

References

  1. (tatton‐brown200915qovergrowthsyndrome pages 1-2): Katrina Tatton‐Brown, Daniela T. Pilz, Karen Helene Örstavik, Michael Patton, John C.K. Barber, Morag N. Collinson, Vivienne K. Maloney, Shuwen Huang, John A. Crolla, Karen Marks, Eli Ormerod, Peter Thompson, Zafar Nawaz, Christa Lese‐Martin, Susan Tomkins, Paula Waits, Nazneen Rahman, and Meriel McEntagart. 15q overgrowth syndrome: a newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q. American Journal of Medical Genetics Part A, 149A:147-154, Feb 2009. URL: https://doi.org/10.1002/ajmg.a.32534, doi:10.1002/ajmg.a.32534. This article has 68 citations.

  2. (tatton‐brown200915qovergrowthsyndrome pages 5-6): Katrina Tatton‐Brown, Daniela T. Pilz, Karen Helene Örstavik, Michael Patton, John C.K. Barber, Morag N. Collinson, Vivienne K. Maloney, Shuwen Huang, John A. Crolla, Karen Marks, Eli Ormerod, Peter Thompson, Zafar Nawaz, Christa Lese‐Martin, Susan Tomkins, Paula Waits, Nazneen Rahman, and Meriel McEntagart. 15q overgrowth syndrome: a newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q. American Journal of Medical Genetics Part A, 149A:147-154, Feb 2009. URL: https://doi.org/10.1002/ajmg.a.32534, doi:10.1002/ajmg.a.32534. This article has 68 citations.

  3. (tatton‐brown200915qovergrowthsyndrome pages 6-8): Katrina Tatton‐Brown, Daniela T. Pilz, Karen Helene Örstavik, Michael Patton, John C.K. Barber, Morag N. Collinson, Vivienne K. Maloney, Shuwen Huang, John A. Crolla, Karen Marks, Eli Ormerod, Peter Thompson, Zafar Nawaz, Christa Lese‐Martin, Susan Tomkins, Paula Waits, Nazneen Rahman, and Meriel McEntagart. 15q overgrowth syndrome: a newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q. American Journal of Medical Genetics Part A, 149A:147-154, Feb 2009. URL: https://doi.org/10.1002/ajmg.a.32534, doi:10.1002/ajmg.a.32534. This article has 68 citations.

  4. (akawi2016arecessivesyndrome pages 3-5): Nadia Akawi, Salma Ben‐Salem, Laura Lahti, Juha Partanen, Bassam R. Ali, and Lihadh Al‐Gazali. A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to wilms tumor is caused by a mutation in fibp gene. American Journal of Medical Genetics Part A, 170:2111-2118, May 2016. URL: https://doi.org/10.1002/ajmg.a.37741, doi:10.1002/ajmg.a.37741. This article has 18 citations.

  5. (cosentino2025expandingtheknowledge pages 1-3): Andrea Cosentino, Flavia D’Orazio, Roberto Magnato, and Wilhelm Berger. Expanding the knowledge about thauvin-robinet-faivre syndrome: a case report with novel clinical findings and review of the literature. Journal of applied genetics, Jun 2025. URL: https://doi.org/10.1007/s13353-025-00984-2, doi:10.1007/s13353-025-00984-2. This article has 1 citations and is from a peer-reviewed journal.

  6. (tatton‐brown200915qovergrowthsyndrome pages 4-5): Katrina Tatton‐Brown, Daniela T. Pilz, Karen Helene Örstavik, Michael Patton, John C.K. Barber, Morag N. Collinson, Vivienne K. Maloney, Shuwen Huang, John A. Crolla, Karen Marks, Eli Ormerod, Peter Thompson, Zafar Nawaz, Christa Lese‐Martin, Susan Tomkins, Paula Waits, Nazneen Rahman, and Meriel McEntagart. 15q overgrowth syndrome: a newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q. American Journal of Medical Genetics Part A, 149A:147-154, Feb 2009. URL: https://doi.org/10.1002/ajmg.a.32534, doi:10.1002/ajmg.a.32534. This article has 68 citations.

  7. (cannarella2017chromosome15structural pages 1-2): Rossella Cannarella, Teresa Mattina, Rosita A Condorelli, Laura M Mongioì, Giuseppe Pandini, Sandro La Vignera, and Aldo E Calogero. Chromosome 15 structural abnormalities: effect on igf1r gene expression and function. Endocrine Connections, 6:528-539, Oct 2017. URL: https://doi.org/10.1530/ec-17-0158, doi:10.1530/ec-17-0158. This article has 34 citations and is from a peer-reviewed journal.

  8. (bodle2019acuteleukemiain pages 1-2): Ethan E. Bodle, Ridhi Gupta, Athena M. Cherry, Lori Muffly, and Melanie A. Manning. Acute leukemia in a patient with 15q overgrowth syndrome. American Journal of Medical Genetics Part A, 179:1025-1029, Jun 2019. URL: https://doi.org/10.1002/ajmg.a.61115, doi:10.1002/ajmg.a.61115. This article has 0 citations.

  9. (tatton‐brown200915qovergrowthsyndrome pages 2-4): Katrina Tatton‐Brown, Daniela T. Pilz, Karen Helene Örstavik, Michael Patton, John C.K. Barber, Morag N. Collinson, Vivienne K. Maloney, Shuwen Huang, John A. Crolla, Karen Marks, Eli Ormerod, Peter Thompson, Zafar Nawaz, Christa Lese‐Martin, Susan Tomkins, Paula Waits, Nazneen Rahman, and Meriel McEntagart. 15q overgrowth syndrome: a newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q. American Journal of Medical Genetics Part A, 149A:147-154, Feb 2009. URL: https://doi.org/10.1002/ajmg.a.32534, doi:10.1002/ajmg.a.32534. This article has 68 citations.

  10. (bodle2019acuteleukemiain pages 2-3): Ethan E. Bodle, Ridhi Gupta, Athena M. Cherry, Lori Muffly, and Melanie A. Manning. Acute leukemia in a patient with 15q overgrowth syndrome. American Journal of Medical Genetics Part A, 179:1025-1029, Jun 2019. URL: https://doi.org/10.1002/ajmg.a.61115, doi:10.1002/ajmg.a.61115. This article has 0 citations.

  11. (akawi2016arecessivesyndrome pages 1-2): Nadia Akawi, Salma Ben‐Salem, Laura Lahti, Juha Partanen, Bassam R. Ali, and Lihadh Al‐Gazali. A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to wilms tumor is caused by a mutation in fibp gene. American Journal of Medical Genetics Part A, 170:2111-2118, May 2016. URL: https://doi.org/10.1002/ajmg.a.37741, doi:10.1002/ajmg.a.37741. This article has 18 citations.

  12. (cosentino2025expandingtheknowledge pages 6-7): Andrea Cosentino, Flavia D’Orazio, Roberto Magnato, and Wilhelm Berger. Expanding the knowledge about thauvin-robinet-faivre syndrome: a case report with novel clinical findings and review of the literature. Journal of applied genetics, Jun 2025. URL: https://doi.org/10.1007/s13353-025-00984-2, doi:10.1007/s13353-025-00984-2. This article has 1 citations and is from a peer-reviewed journal.

  13. (akawi2016arecessivesyndrome pages 2-3): Nadia Akawi, Salma Ben‐Salem, Laura Lahti, Juha Partanen, Bassam R. Ali, and Lihadh Al‐Gazali. A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to wilms tumor is caused by a mutation in fibp gene. American Journal of Medical Genetics Part A, 170:2111-2118, May 2016. URL: https://doi.org/10.1002/ajmg.a.37741, doi:10.1002/ajmg.a.37741. This article has 18 citations.

  14. (akawi2016arecessivesyndrome pages 7-8): Nadia Akawi, Salma Ben‐Salem, Laura Lahti, Juha Partanen, Bassam R. Ali, and Lihadh Al‐Gazali. A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to wilms tumor is caused by a mutation in fibp gene. American Journal of Medical Genetics Part A, 170:2111-2118, May 2016. URL: https://doi.org/10.1002/ajmg.a.37741, doi:10.1002/ajmg.a.37741. This article has 18 citations.

  15. (prawitt2024molecularmechanismsof pages 1-2): Dirk Prawitt and Thomas Eggermann. Molecular mechanisms of human overgrowth and use of omics in its diagnostics: chances and challenges. Frontiers in Genetics, Jun 2024. URL: https://doi.org/10.3389/fgene.2024.1382371, doi:10.3389/fgene.2024.1382371. This article has 5 citations and is from a peer-reviewed journal.

  16. (cosentino2025expandingtheknowledge pages 5-6): Andrea Cosentino, Flavia D’Orazio, Roberto Magnato, and Wilhelm Berger. Expanding the knowledge about thauvin-robinet-faivre syndrome: a case report with novel clinical findings and review of the literature. Journal of applied genetics, Jun 2025. URL: https://doi.org/10.1007/s13353-025-00984-2, doi:10.1007/s13353-025-00984-2. This article has 1 citations and is from a peer-reviewed journal.

  17. (cannarella2017chromosome15structural pages 5-6): Rossella Cannarella, Teresa Mattina, Rosita A Condorelli, Laura M Mongioì, Giuseppe Pandini, Sandro La Vignera, and Aldo E Calogero. Chromosome 15 structural abnormalities: effect on igf1r gene expression and function. Endocrine Connections, 6:528-539, Oct 2017. URL: https://doi.org/10.1530/ec-17-0158, doi:10.1530/ec-17-0158. This article has 34 citations and is from a peer-reviewed journal.

  18. (abolhassani2024clinicalapplicationof pages 9-10): Ayda Abolhassani, Zohreh Fattahi, Maryam Beheshtian, Mahsa Fadaee, Raheleh Vazehan, Fatemeh Ahangari, Shima Dehdahsi, Mehrshid Faraji Zonooz, Elham Parsimehr, Zahra Kalhor, Fatemeh Peymani, Maryam Mozaffarpour Nouri, Mojgan Babanejad, Khadijeh Noudehi, Fatemeh Fatehi, Shima Zamanian Najafabadi, Fariba Afroozan, Hilda Yazdan, Bita Bozorgmehr, Azita Azarkeivan, Shokouh Sadat Mahdavi, Pooneh Nikuei, Farzad Fatehi, Payman Jamali, Mahmoud Reza Ashrafi, Parvaneh Karimzadeh, Haleh Habibi, Kimia Kahrizi, Shahriar Nafissi, Ariana Kariminejad, and Hossein Najmabadi. Clinical application of next generation sequencing for mendelian disease diagnosis in the iranian population. NPJ Genomic Medicine, Feb 2024. URL: https://doi.org/10.1038/s41525-024-00393-0, doi:10.1038/s41525-024-00393-0. This article has 15 citations and is from a peer-reviewed journal.