brachydactyly-syndactyly syndrome
Findings
No curated finding names brachydactyly-syndactyly syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common.
Definition from the Mondo Disease Ontology (MONDO:0012544), read 2026-09-29. CC BY 4.0.
Features
14 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 5th metacarpalHPOHP:0010047
- Very frequent (80% to 99% of cases)
- Short fifth metatarsalHPOHP:0004704
- Very frequent (80% to 99% of cases)
- Short middle phalanx of the 2nd fingerHPOHP:0009577
- Very frequent (80% to 99% of cases)
- Short middle phalanx of the 5th fingerHPOHP:0004220
- Very frequent (80% to 99% of cases)
- Toe syndactylyHPOHP:0001770
- Very frequent (80% to 99% of cases)
- Finger symphalangismHPOHP:0009700
- Frequent (30% to 79% of cases)
- Hallux valgusHPOHP:0001822
- Frequent (30% to 79% of cases)
- BrachydactylyHPOHP:0001156
- CamptodactylyHPOHP:0012385
- Finger syndactylyHPOHP:0006101
- OligodactylyHPOHP:0012165
- Short digitHPOHP:0011927
Show the remaining 2
- Short phalanx of fingerHPOHP:0009803
- SyndactylyHPOHP:0001159
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.
- HOXD13HGNC:5136
- Definitive · G2P · Autosomal dominant · 2023
- Strong · Laboratory for Molecular Medicine · Autosomal dominant · 2020
- Supportive · Orphanet · Autosomal dominant · 2021