brachydactyly type B2
Findings
No curated finding names brachydactyly type B2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Brachydactyly type B2 is a rare, genetic congenital limb malformation disorder characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness.
Definition from the Mondo Disease Ontology (MONDO:0012658), read 2026-09-29. CC BY 4.0.
Features
9 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.
- Absent fingernailHPOHP:0001817
- Very frequent (80% to 99% of cases)
- Short distal phalanx of fingerHPOHP:0009882
- Very frequent (80% to 99% of cases)
- Short distal phalanx of toeHPOHP:0001857
- Very frequent (80% to 99% of cases)
- Short footHPOHP:0001773
- Very frequent (80% to 99% of cases)
- Short toeHPOHP:0001831
- Very frequent (80% to 99% of cases)
- Type B brachydactylyHPOHP:0005831
- Very frequent (80% to 99% 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.
- NOGHGNC:7866
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: brachydactyly type B2
- Also called
- BDB2