brachydactyly type A2
Findings
No curated finding names brachydactyly type A2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Brachydactyly type A2 (BDA2) is a congenital malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the little finger.
Definition from the Mondo Disease Ontology (MONDO:0007216), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
13 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.
- Type A2 brachydactylyHPOHP:0009372
- Very frequent (80% to 99% of cases)
- Clinodactyly of the 5th fingerHPOHP:0004209
- Frequent (30% to 79% of cases)
- Short footHPOHP:0001773
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the middle phalanx of the 2nd fingerHPOHP:0009568
- Occasional (5% to 29% of cases)
- Short 2nd metacarpalHPOHP:0010038
- Occasional (5% to 29% of cases)
- Short middle phalanx of fingerHPOHP:0005819
- Occasional (5% to 29% of cases)
Show the remaining 1
- Triangular shaped middle phalanx of the 5th fingerHPOHP:0009182
Genes
3 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.
- BMPR1BHGNC:1077
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- BMP2HGNC:1069
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2019
- GDF5HGNC:4220
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: brachydactyly type A2
- Also called
- BDA2brachydactyly, Mohr-Wriedt typeMohr-Wriedt type brachydactyly