brachydactyly type E
Findings
No curated finding names brachydactyly type E yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short.
Definition from the Mondo Disease Ontology (MONDO:0019677), read 2026-09-29. CC BY 4.0.
Features
10 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.
- Short metacarpalHPOHP:0010049
- Very frequent (80% to 99% of cases)
- Type E brachydactylyHPOHP:0005863
- Very frequent (80% to 99% of cases)
- Joint hypermobilityHPOHP:0001382
- Frequent (30% to 79% of cases)
- Short distal phalanx of fingerHPOHP:0009882
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the distal phalanx of the halluxHPOHP:0010076
- Occasional (5% to 29% of cases)
- Frontal bossingHPOHP:0002007
- Occasional (5% to 29% of cases)
- MacrocephalyHPOHP:0000256
- Occasional (5% to 29% of cases)
- Short metatarsalHPOHP:0010743
- Occasional (5% to 29% of cases)
- Upper limb asymmetryHPOHP:0100560
- Occasional (5% to 29% of cases)
Genes
2 genes
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.
Where it sits
- A kind of