brachydactyly type C
MONDO:0007221Mondo
Findings
No curated finding names brachydactyly type C yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
24 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Aplasia/Hypoplasia of the 1st metacarpalHPOHP:0010026
- Very frequent (80% to 99% of cases)
- Pseudoepiphysis of the 2nd fingerHPOHP:0009495
- Very frequent (80% to 99% of cases)
- Short middle phalanx of fingerHPOHP:0005819
- Very frequent (80% to 99% of cases)
- Type C brachydactylyHPOHP:0009373
- Very frequent (80% to 99% of cases)
- Ulnar deviation of fingerHPOHP:0009465
- Very frequent (80% to 99% of cases)
- Short middle phalanx of the 2nd fingerHPOHP:0009577
- 2 of 3 reported patients
- Short middle phalanx of the 3rd fingerHPOHP:0009439
- 2 of 3 reported patients
- Short middle phalanx of the 5th fingerHPOHP:0004220
- 2 of 3 reported patients
- Triangular epiphysis of the proximal phalanx of the 2nd fingerHPOHP:0009534
- 2 of 3 reported patients
- Ulnar deviation of the 2nd fingerHPOHP:0009464
- 2 of 3 reported patients
- Abnormal fingernail morphologyHPOHP:0001231
- Frequent (30% to 79% of cases)
- Complete duplication of distal phalanx of the thumbHPOHP:0009606
- Frequent (30% to 79% of cases)
Show the remaining 12
- Cone-shaped epiphysisHPOHP:0010579
- Frequent (30% to 79% of cases)
- Short metatarsalHPOHP:0010743
- Frequent (30% to 79% of cases)
- Stippling of the epiphysis of the distal phalanx of the thumbHPOHP:0009684
- Frequent (30% to 79% of cases)
- Delayed skeletal maturationHPOHP:0002750
- 1 of 2 reported patients
- Clinodactyly of the 5th fingerHPOHP:0004209
- Occasional (5% to 29% of cases)
- Finger symphalangismHPOHP:0009700
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GDF5HGNC:4220
- Definitive · Ambry Genetics · Semidominant · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of