digitotalar dysmorphism
Findings
No curated finding names digitotalar dysmorphism yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis.
Definition from the Mondo Disease Ontology (MONDO:0015240), 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.
- Adducted thumbHPOHP:0001181
- Very frequent (80% to 99% of cases)
- Overlapping fingersHPOHP:0010557
- Very frequent (80% to 99% of cases)
- Camptodactyly of fingerHPOHP:0100490
- Frequent (30% to 79% of cases)
- Joint stiffnessHPOHP:0001387
- Frequent (30% to 79% of cases)
- TalipesHPOHP:0001883
- Frequent (30% to 79% of cases)
- Ulnar deviation of fingerHPOHP:0009465
- Frequent (30% to 79% of cases)
- Abnormal hip bone morphologyHPOHP:0003272
- Occasional (5% to 29% of cases)
- Narrow mouthHPOHP:0000160
- Occasional (5% to 29% of cases)
- Rocker bottom footHPOHP:0001838
- Occasional (5% to 29% of cases)
Genes
6 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.
- MYBPC1HGNC:7549
- Supportive · Orphanet · Autosomal dominant · 2021
- MYH3HGNC:7573
- Supportive · Orphanet · Autosomal dominant · 2021
- NALCNHGNC:19082
- Supportive · Orphanet · Autosomal dominant · 2021
- TNNI2HGNC:11946
- Supportive · Orphanet · Autosomal dominant · 2021
- TNNT3HGNC:11950
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
3 names
Resolves to: digitotalar dysmorphism
- Also called
- arthrogryposis multiplex congenita distal type 1DA1distal arthrogryposis type 1