Spondylocostal Dysostosis

Mendelian MONDO:0000359 Pathograph 3 Show in embeddings browser Vertebral Malformation Disorders

Spondylocostal dysostosis (SCDO) is a congenital axial-skeleton malformation disorder defined radiographically as multiple segmentation defects of the vertebrae in combination with rib abnormalities. It arises from disruption of somitogenesis: the vertebrae and ribs are serially repeated derivatives of the somites, which are produced one pair at a time by the segmentation clock — a coupled Notch/Wnt/FGF oscillator in the presomitic mesoderm — so a lesion in the clock or its Notch components perturbs many segments at once. Autosomal recessive SCDO is caused by biallelic variants in the Notch-pathway genes DLL3 (SCDO1), MESP2 (SCDO2), LFNG (SCDO3), and HES7 (SCDO4), as well as RIPPLY2 and TBX6. Clinically it presents with a short trunk, short neck, usually mild non-progressive scoliosis, and — in severely affected neonates — a small thorax with restrictive respiratory compromise. SCDO is the prototype conformer of the axial-skeleton serial-homology mechanism module.

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1
Inheritance
3
Pathophys.
9
Phenotypes
3
Pathograph
2
Medical Actions
1
References
👪

Inheritance

1
Autosomal Recessive
SCDO is most commonly inherited in an autosomal recessive manner, caused by biallelic pathogenic variants in segmentation-clock / Notch-pathway genes.
Show evidence (1 reference)
PMID:20301771 SUPPORT Human Clinical
"Identification of biallelic pathogenic variants in DLL3, HES7, LFNG, MESP2, RIPPLY2, or TBX6 can confirm the diagnosis of autosomal recessive SCDO."
GeneReviews establishes autosomal recessive inheritance and the causative Notch-pathway gene panel for SCDO.
⚙

Pathophysiology

3
Segmentation Clock Gene Disruption
Biallelic loss-of-function variants in Notch-pathway and segmentation-clock genes (DLL3, MESP2, LFNG, HES7, TBX6; also RIPPLY2) disrupt the oscillatory Notch signaling that drives the segmentation clock in the presomitic mesoderm. Proper regulation of Notch signaling is an absolute requirement for correct patterning of the axial skeleton.
Presomitic (Paraxial) Mesoderm Cell CL:0011007
DLL3 hgnc:2909 MESP2 hgnc:29659 LFNG hgnc:6560 HES7 hgnc:15977 TBX6 hgnc:11605 RIPPLY2 hgnc:21390
Somitogenesis GO:0001756 ⚠ ABNORMAL Notch Signaling Pathway GO:0007219 ⚠ ABNORMAL
Downstream
Disrupted Somite Formation Loss of Notch-driven clock oscillation corrupts periodic somite formation.
Show evidence (2 references)
PMID:16385447 SUPPORT Human Clinical
"These genes are important components of the Notch signaling pathway, which has multiple roles in development and disease."
Identifies the SCDO genes (DLL3, MESP2, LFNG) as Notch-pathway components, the molecular trigger of the disorder.
PMID:20301771 SUPPORT Human Clinical
"Identification of biallelic pathogenic variants in DLL3, HES7, LFNG, MESP2, RIPPLY2, or TBX6 can confirm the diagnosis of autosomal recessive SCDO."
Enumerates the segmentation-clock / Notch-pathway genes whose biallelic variants cause SCDO.
Disrupted Somite Formation
Loss of clock oscillation and wavefront positioning corrupts the periodic formation of somite boundaries, so somites form with abnormal timing, number, or rostrocaudal polarity. The metameric template from which the vertebrae and ribs derive is therefore mis-specified.
Presomitic (Paraxial) Mesoderm Cell CL:0011007
Segmentation GO:0035282 ⚠ ABNORMAL
Downstream
Vertebral and Rib Malsegmentation Mis-specified somites give rise to malsegmented vertebrae and ribs.
Show evidence (2 references)
PMID:16385447 SUPPORT Human Clinical
"The spondylocostal dysostoses (SCDs) are a heterogeneous group of vertebral malsegmentation disorders that arise during embryonic development by a disruption of somitogenesis."
States that SCDO arises from disrupted somitogenesis, the central effector step.
PMID:17965051 SUPPORT Model Organism
"The FGF pathway establishes a posterior-to-anterior signaling gradient in the presomitic mesoderm (PSM), which controls cell maturation and is involved in the positioning of segmental boundaries."
Describes the PSM wavefront that positions segmental boundaries, the mechanism whose disruption mis-forms somites. Evidence source is MODEL_ORGANISM (mouse).
Vertebral and Rib Malsegmentation
Because the vertebrae and ribs are serially homologous somite derivatives, the mis-segmentation manifests as a coordinated multi-segment malformation bundle: multiple vertebral segmentation defects (hemivertebrae, fused/block vertebrae) together with rib abnormalities, producing a short trunk and, in severe disease, a small thorax with respiratory compromise.
Chondrocyte CL:0000138 Osteoblast CL:0000062
Embryonic Skeletal System Morphogenesis GO:0048704 ⚠ ABNORMAL
Show evidence (2 references)
PMID:20301771 SUPPORT Human Clinical
"multiple segmentation defects of the vertebrae in combination with abnormalities of the ribs"
Defines the serially homologous axial bundle — multiple vertebral segmentation defects together with rib abnormalities.
PMID:29765785 SUPPORT Human Clinical
"Patients with spondylocostal dysostosis (SCD) have congenital spine and rib deformities associated with frequently severe thoracic insufficiency and respiratory compromise."
Documents combined congenital spine and rib deformities with thoracic insufficiency, the clinical consequence.
⬡

Pathograph

Use the checkboxes to hide or show graph categories. Hover nodes for evidence and cross-linked metadata.
Pathograph: causal mechanism network for Spondylocostal Dysostosis 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

9
Cardiovascular 1
Pulmonary Hypertension Pulmonary arterial hypertension HP:0002092
Show evidence (1 reference)
PMID:20301771 SUPPORT Human Clinical
"there is a possibility that pulmonary hypertension may eventually impact cardiac function"
GeneReviews notes that restricted pulmonary capacity in severe SCDO can lead to pulmonary hypertension affecting cardiac function.
Digestive 1
Inguinal Hernia Inguinal hernia HP:0000023
Show evidence (1 reference)
PMID:20301771 SUPPORT Human Clinical
"Males with SCDO appear to be at increased risk for inguinal hernia."
GeneReviews documents an increased risk of inguinal hernia in males with SCDO.
Head and Neck 1
Short Neck Short neck HP:0000470
Show evidence (1 reference)
PMID:20301771 SUPPORT Human Clinical
"short neck"
Short neck is a characteristic clinical feature of SCDO.
Musculoskeletal 4
Multiple Vertebral Segmentation Defects Hemivertebrae HP:0002937
Show evidence (1 reference)
PMID:20301771 SUPPORT Human Clinical
"multiple segmentation defects of the vertebrae in combination with abnormalities of the ribs"
SCDO is defined by multiple vertebral segmentation defects.
Vertebral Fusion Vertebral fusion HP:0002948
Show evidence (1 reference)
PMID:20301771 SUPPORT Human Clinical
"multiple segmentation defects of the vertebrae in combination with abnormalities of the ribs"
Vertebral fusion is among the multiple vertebral segmentation defects of SCDO.
Rib Abnormalities Abnormal rib morphology HP:0000772
Show evidence (1 reference)
PMID:20301771 SUPPORT Human Clinical
"multiple segmentation defects of the vertebrae in combination with abnormalities of the ribs"
Rib abnormalities are a defining component of SCDO.
Scoliosis Scoliosis HP:0002650
Show evidence (1 reference)
PMID:20301771 SUPPORT Human Clinical
"non-progressive mild scoliosis in most affected individuals"
Mild non-progressive scoliosis occurs in most individuals with SCDO.
Respiratory 1
Respiratory Insufficiency Respiratory insufficiency HP:0002093
Show evidence (1 reference)
PMID:20301771 SUPPORT Human Clinical
"Respiratory function in neonates with severe disease may be compromised by reduced size of the thorax."
A small thorax can compromise neonatal respiratory function in severe SCDO.
Growth 1
Disproportionate Short-Trunk Short Stature Disproportionate short-trunk short stature HP:0003521
Show evidence (1 reference)
PMID:20301771 SUPPORT Human Clinical
"a short trunk in proportion to height"
SCDO is characterized by a short trunk in proportion to height.
💊

Medical Actions

2
Scoliosis Surgical Management
Action: orthopedic surgical procedure Ontology label: Orthopedic Surgical Procedure NCIT:C16186
Surgical intervention for significant scoliosis, including external bracing and growth-friendly instrumentation such as a vertical expandable prosthetic titanium rib (VEPTR) to expand thoracic volume.
Show evidence (1 reference)
PMID:20301771 SUPPORT Human Clinical
"Surgical intervention may be necessary when scoliosis is significant"
Significant scoliosis in SCDO may require surgical management.
Respiratory Support
Action: supportive care MAXO:0000950
Respiratory support, including intensive care, for the minority of individuals with acute respiratory distress or chronic respiratory failure.
Show evidence (1 reference)
PMID:20301771 SUPPORT Human Clinical
"Respiratory support, including intensive care, is provided as needed"
Respiratory support is provided for severe SCDO with respiratory compromise.
{ }

Source YAML

click to show 
name: Spondylocostal Dysostosis
creation_date: "2026-06-28T00:00:00Z"
category: Mendelian
description: >-
  Spondylocostal dysostosis (SCDO) is a congenital axial-skeleton malformation
  disorder defined radiographically as multiple segmentation defects of the
  vertebrae in combination with rib abnormalities. It arises from disruption of
  somitogenesis: the vertebrae and ribs are serially repeated derivatives of the
  somites, which are produced one pair at a time by the segmentation clock — a
  coupled Notch/Wnt/FGF oscillator in the presomitic mesoderm — so a lesion in
  the clock or its Notch components perturbs many segments at once. Autosomal
  recessive SCDO is caused by biallelic variants in the Notch-pathway genes DLL3
  (SCDO1), MESP2 (SCDO2), LFNG (SCDO3), and HES7 (SCDO4), as well as RIPPLY2 and
  TBX6. Clinically it presents with a short trunk, short neck, usually mild
  non-progressive scoliosis, and — in severely affected neonates — a small
  thorax with restrictive respiratory compromise. SCDO is the prototype
  conformer of the axial-skeleton serial-homology mechanism module.
synonyms:
- Jarcho-Levin syndrome
- spondylothoracic dysostosis
- spondylocostal dysplasia
notes: >-
  The eponym "Jarcho-Levin syndrome" is an umbrella historically applied to both
  spondylocostal dysostosis (SCDO; asymmetric, chaotic vertebral and rib
  malsegmentation) and spondylothoracic dysostosis (STD; the symmetric,
  posteriorly fused "crab-like"/"fan-like" rib form, classically caused by MESP2
  and prevalent in Puerto Rican families). MONDO does not model STD as a distinct
  disease term: "Jarcho-Levin syndrome" is a RELATED synonym of this general SCDO
  term (MONDO:0000359, OMIMPS:277300), whereas "spondylothoracic dysostosis"
  appears only as a scattered synonym on gene-specific SCDO subtype terms
  (SCDO1/DLL3 MONDO:0020692, OMIM:277300; SCDO5/TBX6 MONDO:0007389, OMIM:122600)
  — neither of which is the MESP2 entity. The MESP2 form maps to spondylocostal
  dysostosis 2 (SCDO2; MONDO:0012097, OMIM:608681). Curators should therefore
  record Jarcho-Levin and STD as synonyms here rather than create a separate,
  ambiguously grounded entry (a known named-entity-confusion hazard verified
  2026-06-29).
disease_term:
  preferred_term: spondylocostal dysostosis
  term:
    id: MONDO:0000359
    label: spondylocostal dysostosis
parents:
- Vertebral Malformation Disorders
inheritance:
- name: Autosomal Recessive
  description: >-
    SCDO is most commonly inherited in an autosomal recessive manner, caused by
    biallelic pathogenic variants in segmentation-clock / Notch-pathway genes.
  evidence:
  - reference: PMID:20301771
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: Identification of biallelic pathogenic variants in DLL3, HES7, LFNG, MESP2, RIPPLY2, or TBX6 can confirm the diagnosis of autosomal recessive SCDO.
    explanation: >-
      GeneReviews establishes autosomal recessive inheritance and the
      causative Notch-pathway gene panel for SCDO.
prevalence:
- population: General
  prevalence_class: UNKNOWN
  percentage: Unknown
  notes: >-
    SCDO is a rare disorder documented mainly through case reports, small
    cohorts, and molecularly characterized families rather than formal
    population-prevalence studies; autosomal recessive forms are more frequent in
    consanguineous populations.
pathophysiology:
- name: Segmentation Clock Gene Disruption
  conforms_to: "axial_segmentation_serial_homology#Segmentation Clock and Wavefront Dysfunction"
  description: >-
    Biallelic loss-of-function variants in Notch-pathway and segmentation-clock
    genes (DLL3, MESP2, LFNG, HES7, TBX6; also RIPPLY2) disrupt the oscillatory
    Notch signaling that drives the segmentation clock in the presomitic
    mesoderm. Proper regulation of Notch signaling is an absolute requirement for
    correct patterning of the axial skeleton.
  role: trigger
  genes:
  - preferred_term: DLL3
    term:
      id: hgnc:2909
      label: DLL3
  - preferred_term: MESP2
    term:
      id: hgnc:29659
      label: MESP2
  - preferred_term: LFNG
    term:
      id: hgnc:6560
      label: LFNG
  - preferred_term: HES7
    term:
      id: hgnc:15977
      label: HES7
  - preferred_term: TBX6
    term:
      id: hgnc:11605
      label: TBX6
  - preferred_term: RIPPLY2
    term:
      id: hgnc:21390
      label: RIPPLY2
  cell_types:
  - preferred_term: Presomitic (Paraxial) Mesoderm Cell
    term:
      id: CL:0011007
      label: paraxial cell
  biological_processes:
  - preferred_term: Somitogenesis
    term:
      id: GO:0001756
      label: somitogenesis
    modifier: ABNORMAL
  - preferred_term: Notch Signaling Pathway
    term:
      id: GO:0007219
      label: Notch signaling pathway
    modifier: ABNORMAL
  evidence:
  - reference: PMID:16385447
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: These genes are important components of the Notch signaling pathway, which has multiple roles in development and disease.
    explanation: >-
      Identifies the SCDO genes (DLL3, MESP2, LFNG) as Notch-pathway components,
      the molecular trigger of the disorder.
  - reference: PMID:20301771
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: Identification of biallelic pathogenic variants in DLL3, HES7, LFNG, MESP2, RIPPLY2, or TBX6 can confirm the diagnosis of autosomal recessive SCDO.
    explanation: >-
      Enumerates the segmentation-clock / Notch-pathway genes whose biallelic
      variants cause SCDO.
  downstream:
  - target: Disrupted Somite Formation
    description: Loss of Notch-driven clock oscillation corrupts periodic somite formation.
    causal_link_type: INDIRECT_KNOWN_INTERMEDIATES
    intermediate_mechanisms:
    - loss of cyclic Notch target-gene oscillation in the presomitic mesoderm
- name: Disrupted Somite Formation
  conforms_to: "axial_segmentation_serial_homology#Disrupted Somite Boundary Formation"
  description: >-
    Loss of clock oscillation and wavefront positioning corrupts the periodic
    formation of somite boundaries, so somites form with abnormal timing, number,
    or rostrocaudal polarity. The metameric template from which the vertebrae and
    ribs derive is therefore mis-specified.
  role: central_effector
  cell_types:
  - preferred_term: Presomitic (Paraxial) Mesoderm Cell
    term:
      id: CL:0011007
      label: paraxial cell
  biological_processes:
  - preferred_term: Segmentation
    term:
      id: GO:0035282
      label: segmentation
    modifier: ABNORMAL
  evidence:
  - reference: PMID:16385447
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: The spondylocostal dysostoses (SCDs) are a heterogeneous group of vertebral malsegmentation disorders that arise during embryonic development by a disruption of somitogenesis.
    explanation: >-
      States that SCDO arises from disrupted somitogenesis, the central effector
      step.
  - reference: PMID:17965051
    supports: SUPPORT
    evidence_source: MODEL_ORGANISM
    snippet: The FGF pathway establishes a posterior-to-anterior signaling gradient in the presomitic mesoderm (PSM), which controls cell maturation and is involved in the positioning of segmental boundaries.
    explanation: >-
      Describes the PSM wavefront that positions segmental boundaries, the
      mechanism whose disruption mis-forms somites. Evidence source is
      MODEL_ORGANISM (mouse).
  downstream:
  - target: Vertebral and Rib Malsegmentation
    description: Mis-specified somites give rise to malsegmented vertebrae and ribs.
    causal_link_type: INDIRECT_KNOWN_INTERMEDIATES
    intermediate_mechanisms:
    - mis-specified metameric somite template
- name: Vertebral and Rib Malsegmentation
  conforms_to: "axial_segmentation_serial_homology#Vertebral and Costal Malsegmentation"
  description: >-
    Because the vertebrae and ribs are serially homologous somite derivatives,
    the mis-segmentation manifests as a coordinated multi-segment malformation
    bundle: multiple vertebral segmentation defects (hemivertebrae, fused/block
    vertebrae) together with rib abnormalities, producing a short trunk and, in
    severe disease, a small thorax with respiratory compromise.
  role: consequence
  cell_types:
  - preferred_term: Chondrocyte
    term:
      id: CL:0000138
      label: chondrocyte
  - preferred_term: Osteoblast
    term:
      id: CL:0000062
      label: osteoblast
  biological_processes:
  - preferred_term: Embryonic Skeletal System Morphogenesis
    term:
      id: GO:0048704
      label: embryonic skeletal system morphogenesis
    modifier: ABNORMAL
  evidence:
  - reference: PMID:20301771
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: multiple segmentation defects of the vertebrae in combination with abnormalities of the ribs
    explanation: >-
      Defines the serially homologous axial bundle — multiple vertebral
      segmentation defects together with rib abnormalities.
  - reference: PMID:29765785
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: Patients with spondylocostal dysostosis (SCD) have congenital spine and rib deformities associated with frequently severe thoracic insufficiency and respiratory compromise.
    explanation: >-
      Documents combined congenital spine and rib deformities with thoracic
      insufficiency, the clinical consequence.
phenotypes:
- name: Multiple Vertebral Segmentation Defects
  description: >-
    Multiple hemivertebrae and fused/block vertebrae are the defining
    radiographic feature of SCDO, reflecting mis-segmentation across many axial
    segments.
  phenotype_term:
    preferred_term: Hemivertebrae
    term:
      id: HP:0002937
      label: Hemivertebrae
  evidence:
  - reference: PMID:20301771
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: multiple segmentation defects of the vertebrae in combination with abnormalities of the ribs
    explanation: SCDO is defined by multiple vertebral segmentation defects.
- name: Vertebral Fusion
  description: Fused/block vertebrae are part of the multiple-segmentation-defect phenotype.
  phenotype_term:
    preferred_term: Vertebral fusion
    term:
      id: HP:0002948
      label: Vertebral fusion
  evidence:
  - reference: PMID:20301771
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: multiple segmentation defects of the vertebrae in combination with abnormalities of the ribs
    explanation: Vertebral fusion is among the multiple vertebral segmentation defects of SCDO.
- name: Rib Abnormalities
  description: >-
    Rib malalignment, fusion, or abnormal number accompanies the vertebral
    defects, reflecting the shared somite origin of vertebrae and ribs.
  phenotype_term:
    preferred_term: Abnormal rib morphology
    term:
      id: HP:0000772
      label: Abnormal rib morphology
  evidence:
  - reference: PMID:20301771
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: multiple segmentation defects of the vertebrae in combination with abnormalities of the ribs
    explanation: Rib abnormalities are a defining component of SCDO.
- name: Disproportionate Short-Trunk Short Stature
  description: The axial malsegmentation produces a short trunk in proportion to height.
  phenotype_term:
    preferred_term: Disproportionate short-trunk short stature
    term:
      id: HP:0003521
      label: Disproportionate short-trunk short stature
  evidence:
  - reference: PMID:20301771
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: a short trunk in proportion to height
    explanation: SCDO is characterized by a short trunk in proportion to height.
- name: Short Neck
  description: A short neck results from cervical vertebral segmentation defects.
  phenotype_term:
    preferred_term: Short neck
    term:
      id: HP:0000470
      label: Short neck
  evidence:
  - reference: PMID:20301771
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: short neck
    explanation: Short neck is a characteristic clinical feature of SCDO.
- name: Scoliosis
  description: Most affected individuals have non-progressive mild scoliosis.
  phenotype_term:
    preferred_term: Scoliosis
    term:
      id: HP:0002650
      label: Scoliosis
  evidence:
  - reference: PMID:20301771
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: non-progressive mild scoliosis in most affected individuals
    explanation: Mild non-progressive scoliosis occurs in most individuals with SCDO.
- name: Respiratory Insufficiency
  description: >-
    Neonates with severe disease can have respiratory compromise from a small
    thorax; lung growth may improve after infancy.
  phenotype_term:
    preferred_term: Respiratory insufficiency
    term:
      id: HP:0002093
      label: Respiratory insufficiency
  evidence:
  - reference: PMID:20301771
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: Respiratory function in neonates with severe disease may be compromised by reduced size of the thorax.
    explanation: A small thorax can compromise neonatal respiratory function in severe SCDO.
- name: Inguinal Hernia
  description: >-
    Males with SCDO are at increased risk for inguinal hernia, a sex-specific,
    management-relevant feature for which GeneReviews advises surveillance of
    affected young males.
  phenotype_term:
    preferred_term: Inguinal hernia
    term:
      id: HP:0000023
      label: Inguinal hernia
  evidence:
  - reference: PMID:20301771
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: Males with SCDO appear to be at increased risk for inguinal hernia.
    explanation: GeneReviews documents an increased risk of inguinal hernia in males with SCDO.
- name: Pulmonary Hypertension
  description: >-
    In severely affected individuals with restricted pulmonary capacity, chronic
    respiratory compromise can lead to pulmonary hypertension that may eventually
    impact cardiac function.
  phenotype_term:
    preferred_term: Pulmonary hypertension
    term:
      id: HP:0002092
      label: Pulmonary arterial hypertension
  evidence:
  - reference: PMID:20301771
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: there is a possibility that pulmonary hypertension may eventually impact cardiac function
    explanation: GeneReviews notes that restricted pulmonary capacity in severe SCDO can lead to pulmonary hypertension affecting cardiac function.
treatments:
- name: Scoliosis Surgical Management
  description: >-
    Surgical intervention for significant scoliosis, including external bracing
    and growth-friendly instrumentation such as a vertical expandable prosthetic
    titanium rib (VEPTR) to expand thoracic volume.
  treatment_term:
    preferred_term: orthopedic surgical procedure
    term:
      id: NCIT:C16186
      label: Orthopedic Surgical Procedure
  evidence:
  - reference: PMID:20301771
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: Surgical intervention may be necessary when scoliosis is significant
    explanation: Significant scoliosis in SCDO may require surgical management.
- name: Respiratory Support
  description: >-
    Respiratory support, including intensive care, for the minority of
    individuals with acute respiratory distress or chronic respiratory failure.
  treatment_term:
    preferred_term: supportive care
    term:
      id: MAXO:0000950
      label: supportive care
  evidence:
  - reference: PMID:20301771
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: Respiratory support, including intensive care, is provided as needed
    explanation: Respiratory support is provided for severe SCDO with respiratory compromise.
references:
- reference: PMID:20301771
  title: "Spondylocostal Dysostosis, Autosomal Recessive."
  tags:
  - GeneReviews
  findings: []
📚

References & Deep Research

References

1
PMID:20301771
Spondylocostal Dysostosis, Autosomal Recessive.
No top-level findings curated for this source.