Cooks syndrome is an isolated malformation of the apical structures of the digits: absent or dysplastic nails together with hypoplasia or absence of the distal phalanges, usually affecting more than half the digits of hands and feet, with thumbs that may look "digitalized". Despite the eponym it is not a multisystem syndrome — reported patients have normal stature, normal intellectual development, and no other skeletal abnormality — which is why the ISDS nosology places it with the isolated brachydactylies rather than the syndromic ones. Its mechanistic interest is out of proportion to its rarity. Cooks syndrome is caused not by a coding variant but by duplications at 17q24.3 that cross the boundary between the SOX9 topologically associating domain and the neighbouring KCNJ domain. Chromosome conformation capture showed that such a boundary-crossing duplication builds an entirely new chromatin domain — a neo-TAD — which captures KCNJ2 and exposes it to SOX9 limb enhancers, so KCNJ2 is misexpressed in the digit anlagen. The gene is an inward-rectifier potassium channel whose coding mutations cause Andersen-Tawil syndrome; here the channel is structurally normal and simply switched on in the wrong tissue, and affected individuals have none of the Andersen-Tawil phenotype. Cooks syndrome is therefore one of the clearest human demonstrations that where a gene is expressed, set by three-dimensional genome architecture, can be the disease mechanism.
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name: Cooks Syndrome
synonyms:
- Brachydactyly-anonychia
- Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges
- ODP
creation_date: '2026-08-27T00:00:00Z'
category: Mendelian
description: >
Cooks syndrome is an isolated malformation of the apical structures of the
digits: absent or dysplastic nails together with hypoplasia or absence of the
distal phalanges, usually affecting more than half the digits of hands and
feet, with thumbs that may look "digitalized". Despite the eponym it is not a
multisystem syndrome — reported patients have normal stature, normal
intellectual development, and no other skeletal abnormality — which is why the
ISDS nosology places it with the isolated brachydactylies rather than the
syndromic ones.
Its mechanistic interest is out of proportion to its rarity. Cooks syndrome is
caused not by a coding variant but by duplications at 17q24.3 that cross the
boundary between the SOX9 topologically associating domain and the neighbouring
KCNJ domain. Chromosome conformation capture showed that such a
boundary-crossing duplication builds an entirely new chromatin domain — a
neo-TAD — which captures KCNJ2 and exposes it to SOX9 limb enhancers, so KCNJ2
is misexpressed in the digit anlagen. The gene is an inward-rectifier potassium
channel whose coding mutations cause Andersen-Tawil syndrome; here the channel
is structurally normal and simply switched on in the wrong tissue, and affected
individuals have none of the Andersen-Tawil phenotype. Cooks syndrome is
therefore one of the clearest human demonstrations that where a gene is
expressed, set by three-dimensional genome architecture, can be the disease
mechanism.
disease_term:
preferred_term: Cooks syndrome
term:
id: MONDO:0007134
label: Cooks syndrome
parents:
- Limb Development Disorders
inheritance:
- name: Autosomal Dominant
inheritance_term:
preferred_term: Autosomal dominant inheritance
term:
id: HP:0000006
label: Autosomal dominant inheritance
description: >-
Autosomal dominant transmission of a 17q24.3 duplication, documented over
four generations in the largest reported family.
evidence:
- reference: PMID:32583964
reference_title: A 17q24.3 duplication identified in a large Chinese family with brachydactyly-anonychia.
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "In this study, a large Chinese family with three members affected by brachydactyly-anonychia was investigated."
explanation: A multigenerational family with three living affected members establishes dominant transmission.
- reference: PMID:32583964
reference_title: A 17q24.3 duplication identified in a large Chinese family with brachydactyly-anonychia.
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "Remarkably, a 1.9 Mb duplication in chromosome 17q24.3"
explanation: Identifies the segregating copy-number variant in the affected members.
classifications:
isds_skeletal_category:
- classification_value: brachydactyly_without_extraskeletal_manifestations
notes: >-
ISDS Nosology of Genetic Skeletal Disorders, 2023 revision (Unger et al.,
PMID:36779427), group 18 "Brachydactylies (isolated)", which lists
brachydactyly with anonychia (Cooks syndrome, KCNJ2). The placement in the
"isolated" rather than the "as part of syndromes" group is deliberate
despite the eponym: the phenotype is confined to the apical digital
structures, with normal stature, normal development, and no other skeletal
abnormality. Anonychia here is part of the apical digit malformation — nail
and terminal phalanx form as one unit — not an extraskeletal feature. The
2019 revision (PMID:31633310) placed it in group 37 "Brachydactylies
(without extraskeletal manifestations)". Per-row re-verification against
the 2023 Table 1 is tracked in monarch-initiative/dismech#7867.
prevalence:
- population: Reported families worldwide
measure_type: CASES_IN_LITERATURE
prevalence_class: UNKNOWN
notes: >-
Extremely rare. Seven affected individuals in four families were reported in
the original genomic series in 2009, with essentially no further reports
until a single Chinese family in 2020.
evidence:
- reference: PMID:32583964
reference_title: A 17q24.3 duplication identified in a large Chinese family with brachydactyly-anonychia.
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "reported seven affected individuals representing BD as well as absent nails in all digits"
explanation: Records the size of the original case series.
- reference: PMID:32583964
reference_title: A 17q24.3 duplication identified in a large Chinese family with brachydactyly-anonychia.
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "Since then, no other studies have reported this disease any more."
explanation: States the near-absence of further reports in the intervening decade.
- reference: PMID:34821995
reference_title: A novel complex genomic rearrangement affecting the KCNJ2 regulatory region causes a variant of Cooks syndrome.
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "To date, six CS families were resolved at the molecular level."
explanation: Gives the running total of molecularly resolved Cooks syndrome families as of 2022.
pathophysiology:
- name: Boundary-Crossing Duplication at 17q24.3
role: trigger
biological_scale: MOLECULAR
description: >
The causal lesion is a tandem duplication of roughly 1-2 Mb at 17q24.3 that
contains the coding sequences of KCNJ2 and KCNJ16 together with noncoding
regulatory sequence 5' of SOX9. What matters is not the extra copy of any
gene but where the duplication starts and stops: it spans the boundary
between the SOX9 TAD and the neighbouring KCNJ TAD. Duplications confined
within the SOX9 TAD produce a different disease (sex reversal), and
duplications that stay inside a single boundary can be phenotypically silent
— so the pathogenicity is a property of the breakpoints relative to TAD
architecture, not of dosage. In-tandem duplication is not the only route: a
de novo 1;17 translocation affecting the KCNJ2 locus produces the same
phenotype, which widens the lesion class to any rearrangement that
reorganises this boundary.
gene:
preferred_term: KCNJ2
term:
id: hgnc:6263
label: KCNJ2
evidence:
- reference: PMID:32583964
reference_title: A 17q24.3 duplication identified in a large Chinese family with brachydactyly-anonychia.
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "which is involved in two coding regions of KCNJ2 and KCNJ16"
explanation: Defines the gene content of the duplicated interval.
- reference: PMID:32583964
reference_title: A 17q24.3 duplication identified in a large Chinese family with brachydactyly-anonychia.
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "To further verify the potential pathogenicity of this CNV, we conducted qPCR analysis to screen for this duplicated region in 500 normal controls and no one carried this variation."
explanation: Control screening supports the duplication as pathogenic rather than a common variant.
- reference: PMID:27706140
reference_title: Formation of new chromatin domains determines pathogenicity of genomic duplications.
supports: SUPPORT
evidence_source: MODEL_ORGANISM
snippet: "Duplications of non-coding DNA within the mouse Sox9 TAD (intra-TAD) that cause female to male sex reversal in humans, showed increased contact of the duplicated regions within the TAD, but no change in the overall TAD structure."
explanation: >-
Establishes that a duplication contained within the SOX9 TAD gives a
different phenotype, so breakpoint position relative to the boundary is
what matters.
- reference: PMID:34821995
reference_title: A novel complex genomic rearrangement affecting the KCNJ2 regulatory region causes a variant of Cooks syndrome.
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "Cooks syndrome (CS) is an ultrarare limb malformation due to in tandem microduplications involving KCNJ2 and extending to the 5' regulatory element of SOX9."
explanation: Independent statement of the duplication class that defines Cooks syndrome.
- reference: PMID:34821995
reference_title: A novel complex genomic rearrangement affecting the KCNJ2 regulatory region causes a variant of Cooks syndrome.
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "Here, we report a unique case of CS associated with a de novo 1;17 translocation affecting the KCNJ2 locus."
explanation: >-
A non-duplication rearrangement producing the same phenotype. It widens
the lesion class this node describes, showing that in-tandem duplication
is not the only route to Cooks syndrome.
downstream:
- target: Neo-TAD Formation and Ectopic KCNJ2 Enhancer Contact
description: >-
A duplication extending past the TAD boundary reorganises the local
chromatin into a new self-contained domain.
causal_link_type: DIRECT
evidence:
- reference: PMID:27706140
reference_title: Formation of new chromatin domains determines pathogenicity of genomic duplications.
supports: SUPPORT
evidence_source: MODEL_ORGANISM
snippet: "In contrast, overlapping duplications that extended over the next boundary into the neighbouring TAD (inter-TAD), resulted in the formation of a new chromatin domain (neo-TAD) that was isolated from the rest of the genome."
explanation: Shows boundary-crossing duplications generate a neo-TAD.
- name: Neo-TAD Formation and Ectopic KCNJ2 Enhancer Contact
role: central_effector
biological_scale: MOLECULAR
description: >
Inside the neo-TAD, KCNJ2 comes to lie in the same insulated compartment as
the duplicated portion of the SOX9 regulatory landscape. Capture Hi-C and
4C-seq show ectopic contacts between KCNJ2 and those enhancers. The
consequence is tissue-specific misexpression: KCNJ2 is switched on in the
digit anlagen and limb buds, where SOX9 enhancers are active and where KCNJ2
is normally silent. A neo-TAD that does not capture a gene has no phenotypic
effect, which is the control that identifies gene capture, rather than
domain formation itself, as the pathogenic step.
gene:
preferred_term: SOX9
term:
id: hgnc:11204
label: SOX9
biological_processes:
- preferred_term: Regulation of Transcription by RNA Polymerase II
term:
id: GO:0006357
label: regulation of transcription by RNA polymerase II
modifier: DYSREGULATED
molecular_functions:
- preferred_term: Inward Rectifier Potassium Channel Activity
term:
id: GO:0005242
label: inward rectifier potassium channel activity
modifier: INCREASED
evidence:
- reference: PMID:27706140
reference_title: Formation of new chromatin domains determines pathogenicity of genomic duplications.
supports: SUPPORT
evidence_source: MODEL_ORGANISM
snippet: "However, incorporation of the next flanking gene, Kcnj2, in the neo-TAD resulted in ectopic contacts of Kcnj2 with the duplicated part of the Sox9 regulatory region, consecutive misexpression of Kcnj2, and a limb malformation phenotype."
explanation: >-
The central mechanistic result — gene capture into the neo-TAD drives
KCNJ2 misexpression and limb malformation.
- reference: PMID:27706140
reference_title: Formation of new chromatin domains determines pathogenicity of genomic duplications.
supports: SUPPORT
evidence_source: MODEL_ORGANISM
snippet: "As a consequence of this insulation, inter-TAD duplications had no phenotypic effect."
explanation: >-
The negative control: forming a neo-TAD without capturing a gene produces
no phenotype, isolating gene capture as the pathogenic step.
- reference: PMID:32583964
reference_title: A 17q24.3 duplication identified in a large Chinese family with brachydactyly-anonychia.
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "17q24.3 duplications disrupt the boundary between SOX9 TAD and KCNJ TAD, leading to overexpression of Kcnj2 in the digit anlagen and limb buds"
explanation: Restates the boundary-disruption-to-misexpression mechanism for the human duplication.
- reference: PMID:34821995
reference_title: A novel complex genomic rearrangement affecting the KCNJ2 regulatory region causes a variant of Cooks syndrome.
supports: REFUTE
directness: INDIRECT
evidence_source: HUMAN_CLINICAL
snippet: "Gene expression analysis demonstrated downregulation of KCNJ2 in both patient's blood cells and cultured skin fibroblasts."
explanation: >-
Cuts against this node's INCREASED direction: in the translocation case
KCNJ2 was *down*-regulated, with the breakpoint separating KCNJ2 from a
putative enhancer. What the finding establishes is that a rearrangement
giving the Cooks phenotype can reduce rather than raise KCNJ2 output, so
increased expression is not a necessary feature of the lesion class and
the direction that matters for the limb is unsettled. Graded INDIRECT
because the measurement was made in blood and cultured fibroblasts rather
than the digit anlagen, so it reaches the limb claim only through the
inference that accessible tissues report on limb-bud expression.
- reference: PMID:34821995
reference_title: A novel complex genomic rearrangement affecting the KCNJ2 regulatory region causes a variant of Cooks syndrome.
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "Our findings suggest that a complex rearrangement falling in the 5' of KCNJ2 may mimic the developmental consequences of in tandem duplications affecting the SOX9-KCNJ2/Sox9-Kcnj2 locus."
explanation: >-
The authors converge on the same conclusion by a different lesion: what
matters is disturbance of the KCNJ2 regulatory landscape.
downstream:
- target: Apical Digit Malformation with Anonychia
description: >-
Ectopic KCNJ2 activity in the digit anlagen disturbs formation of the
terminal phalanx and its nail unit.
causal_link_type: INDIRECT_UNKNOWN_INTERMEDIATES
evidence:
- reference: PMID:32583964
reference_title: A 17q24.3 duplication identified in a large Chinese family with brachydactyly-anonychia.
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "our findings suggest that 17q24.3 duplication is the genetic cause of brachydactyly-anonychia in this family"
explanation: Links the duplication to the digital phenotype in an independent family.
- name: Apical Digit Malformation with Anonychia
conforms_to: "limb_digit_patterning_serial_homology#Serially Homologous Autopod Malformation"
role: consequence
biological_scale: TISSUE
description: >
The realised malformation is confined to the apical digital structures:
hypoplasia or absence of distal phalanges with absent or dystrophic nails,
typically in more than half the digits of both hands and feet, and thumbs
that may appear digitalized. Because the terminal phalanx and the nail unit
develop together, the anonychia is part of the same apical lesion rather than
a separate ectodermal defect. Nothing outside the autopod is affected — no
short stature, no developmental delay, no other skeletal abnormality, and
none of the Andersen-Tawil phenotype that KCNJ2 coding mutations produce.
biological_processes:
- preferred_term: Embryonic Digit Morphogenesis
term:
id: GO:0042733
label: embryonic digit morphogenesis
modifier: ABNORMAL
- preferred_term: Limb Morphogenesis
term:
id: GO:0035108
label: limb morphogenesis
modifier: ABNORMAL
evidence:
- reference: PMID:32583964
reference_title: A 17q24.3 duplication identified in a large Chinese family with brachydactyly-anonychia.
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "had the normal stature as well as intellectual development and no other skeletal abnormality"
explanation: Confirms the malformation is confined to the digits.
- reference: PMID:32583964
reference_title: A 17q24.3 duplication identified in a large Chinese family with brachydactyly-anonychia.
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "brachydactyly-anonychia but no any phenotypes related to Andersen"
explanation: >-
Affected individuals lack the Andersen-Tawil phenotype, consistent with a
tissue-restricted misexpression mechanism rather than altered channel
function everywhere.
downstream:
- target: Anonychia
causal_link_type: DIRECT
- target: Aplasia or Hypoplasia of the Distal Phalanges of the Hand
causal_link_type: DIRECT
- target: Aplasia or Hypoplasia of the Middle Phalanges of the Hand
causal_link_type: DIRECT
- target: Aplasia or Hypoplasia of the Distal Phalanges of the Toes
causal_link_type: DIRECT
- target: Brachydactyly
causal_link_type: DIRECT
phenotypes:
- category: Skeletal
name: Anonychia
description: >
Absent or severely dystrophic nails on the affected digits, the feature that
names the phenotype.
phenotype_term:
preferred_term: Anonychia
term:
id: HP:0001798
label: Anonychia
frequency: OBLIGATE
evidence:
- reference: PMID:32583964
reference_title: A 17q24.3 duplication identified in a large Chinese family with brachydactyly-anonychia.
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "reported seven affected individuals representing BD as well as absent nails in all digits"
explanation: Absent nails in all digits in the original case series.
- category: Skeletal
name: Aplasia or Hypoplasia of the Distal Phalanges of the Hand
description: >
Hypoplasia or absence of the terminal phalanges of the fingers; in the
Chinese family the middle phalanges of fingers II-V were absent
radiographically.
phenotype_term:
preferred_term: Aplasia/Hypoplasia of the distal phalanges of the hand
term:
id: HP:0009835
label: Aplasia/Hypoplasia of the distal phalanges of the hand
frequency: OBLIGATE
evidence:
- reference: PMID:32583964
reference_title: A 17q24.3 duplication identified in a large Chinese family with brachydactyly-anonychia.
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "our clinical data described a BD characterized by complete absence of middle phalanges of finger/toes II"
explanation: Radiographic documentation of absent phalanges in the affected rays.
- category: Skeletal
name: Aplasia or Hypoplasia of the Distal Phalanges of the Toes
description: >
The feet are affected in the same distribution as the hands.
phenotype_term:
preferred_term: Aplasia/Hypoplasia of the distal phalanges of the toes
term:
id: HP:0010185
label: Aplasia/Hypoplasia of the distal phalanges of the toes
frequency: VERY_FREQUENT
evidence:
- reference: PMID:32583964
reference_title: A 17q24.3 duplication identified in a large Chinese family with brachydactyly-anonychia.
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "our clinical data described a BD characterized by complete absence of middle phalanges of finger/toes II"
explanation: The same ray distribution is documented in the upper and lower extremities.
- category: Skeletal
name: Brachydactyly
description: >
Short digits follow from the missing terminal skeletal segments.
phenotype_term:
preferred_term: Brachydactyly
term:
id: HP:0001156
label: Brachydactyly
frequency: OBLIGATE
evidence:
- reference: PMID:32583964
reference_title: A 17q24.3 duplication identified in a large Chinese family with brachydactyly-anonychia.
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "Brachydactyly (BD) is a rare autosomal dominant inherited disease characterized by shortness of the fingers and/or toes"
explanation: Establishes digital shortening as the phenotype under investigation.
- category: Skeletal
name: Aplasia or Hypoplasia of the Middle Phalanges of the Hand
description: >
In the Chinese family the radiographic lesion was absence of the middle
phalanges of fingers and toes II-V, not only of the terminal segments,
showing that the deficiency can extend one joint further proximally than the
classic "apical structures" description implies.
phenotype_term:
preferred_term: Aplasia/Hypoplasia of the middle phalanges of the hand
term:
id: HP:0009843
label: Aplasia/Hypoplasia of the middle phalanges of the hand
frequency: FREQUENT
evidence:
- reference: PMID:32583964
reference_title: A 17q24.3 duplication identified in a large Chinese family with brachydactyly-anonychia.
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "our clinical data described a BD characterized by complete absence of middle phalanges of finger/toes II"
explanation: Radiographic absence of middle phalanges in all three affected family members.
genetic:
- name: 17q24.3 Boundary-Crossing Duplication
gene_term:
preferred_term: KCNJ2
term:
id: hgnc:6263
label: KCNJ2
association: Causative
relationship_type: CAUSATIVE
variant_origin: GERMLINE
notes: >-
A tandem duplication at 17q24.3 spanning the SOX9/KCNJ TAD boundary and
including the KCNJ2 and KCNJ16 coding sequences plus SOX9 upstream
regulatory sequence. Four overlapping duplications in an approximately 2 Mb
interval were reported in the original four families, and a 1.9 Mb
duplication in a later Chinese family. Because the lesion is a copy-number
variant with a regulatory mechanism, exome sequencing is negative — the
Chinese family was solved only after array CGH. KCNJ2 coding mutations cause
Andersen-Tawil syndrome, an unrelated phenotype.
evidence:
- reference: PMID:32583964
reference_title: A 17q24.3 duplication identified in a large Chinese family with brachydactyly-anonychia.
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "Both whole-exome sequencing and microarray-based comparative genomic hybridization (CGH) were performed on this family and the results of copy number variation (CNV) were verified by quantitative real-time PCR (qPCR)."
explanation: Documents the testing strategy that identified the copy-number lesion.
- reference: PMID:32583964
reference_title: A 17q24.3 duplication identified in a large Chinese family with brachydactyly-anonychia.
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "However, through whole-exome sequencing (WES), we detected no pathogenic mutations in genes conferred to bone development."
explanation: Explains why sequencing alone does not diagnose this disorder.
- reference: PMID:32583964
reference_title: A 17q24.3 duplication identified in a large Chinese family with brachydactyly-anonychia.
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "In summary, our findings suggest that 17q24.3 duplication is the genetic cause of brachydactyly-anonychia in this family, which support the prior report that brachydactyly-anonychia is associated with 17q24.3 duplication, and further indicates the pathogenic correlation between BD and CNVs."
explanation: Independent replication of the 17q24.3 duplication as the cause.
diagnosis:
- name: Copy-number diagnosis after a negative exome
description: >-
Recognised clinically by absent nails with hypoplastic or absent distal
phalanges across most digits of hands and feet in an otherwise normal child.
Confirmation requires copy-number analysis — chromosomal microarray or array
CGH, verified by qPCR — because the lesion is a noncoding-boundary
duplication that exome sequencing does not detect. A negative gene panel is
expected and should not stop the workup.
diagnosis_term:
preferred_term: array comparative genomic hybridization
term:
id: NCIT:C198497
label: Array-based Comparative Genomic Hybridization
results: >-
A 17q24.3 duplication spanning the SOX9/KCNJ TAD boundary, with normal
exome sequencing.
evidence:
- reference: PMID:32583964
reference_title: A 17q24.3 duplication identified in a large Chinese family with brachydactyly-anonychia.
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "Because some CNVs, including deletions and duplications, cannot be readily detected by WES, we also employed comparative genomic hybridization (CGH) for CNV analysis on this family."
explanation: States why copy-number analysis is required after a negative exome.
- reference: PMID:32583964
reference_title: A 17q24.3 duplication identified in a large Chinese family with brachydactyly-anonychia.
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "We next confirmed this duplication by qPCR"
explanation: Documents qPCR as the confirmatory step for the array finding.
treatments:
- name: Genetic Counseling
description: >-
Counseling for autosomal dominant transmission of a copy-number variant,
including the point that the phenotype is confined to the digits and carries
no Andersen-Tawil cardiac or neuromuscular risk despite involving KCNJ2.
therapeutic_modality: BEHAVIORAL
treatment_term:
preferred_term: Genetic Counseling
term:
id: NCIT:C15240
label: Genetic Counseling
evidence:
- reference: PMID:32583964
reference_title: A 17q24.3 duplication identified in a large Chinese family with brachydactyly-anonychia.
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "brachydactyly-anonychia but no any phenotypes related to Andersen"
explanation: Supports counseling that the KCNJ2-associated cardiac phenotype does not accompany this duplication.
- reference: PMID:18554391
reference_title: Brachydactyly.
supports: SUPPORT
evidence_source: OTHER
snippet: "The nature of genetic counseling depends both on the pattern of inheritance of the type of brachydactyly present in the family and on the presence or absence of accompanying symptoms."
explanation: Supports inheritance- and phenotype-specific counseling.
- name: Function-Directed Hand Care
description: >-
Management is supportive and directed at hand function and nail-bed care;
there is no disease-specific treatment.
therapeutic_modality: BEHAVIORAL
treatment_term:
preferred_term: supportive care
term:
id: NCIT:C15747
label: Supportive Care
evidence:
- reference: PMID:18554391
reference_title: Brachydactyly.
supports: SUPPORT
evidence_source: OTHER
snippet: "There is no specific management or treatment that is applicable to all forms of brachydactyly."
explanation: Supports symptom-directed rather than disease-specific management.
- reference: PMID:18554391
reference_title: Brachydactyly.
supports: SUPPORT
evidence_source: OTHER
snippet: "Physical therapy and ergotherapy may ameliorate hand function."
explanation: Supports function-directed rehabilitation.
references:
- reference: PMID:34821995
title: A novel complex genomic rearrangement affecting the KCNJ2 regulatory region causes a variant of Cooks syndrome.
- reference: PMID:19639023
title: Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia.
- reference: PMID:18554391
title: Brachydactyly.