heart-hand syndrome type 2
Findings
No curated finding names heart-hand syndrome type 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation).
Definition from the Mondo Disease Ontology (MONDO:0015284), read 2026-09-29. CC BY 4.0.
Features
25 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.
- Abnormal clavicle morphologyHPOHP:0000889
- Very frequent (80% to 99% of cases)
- Abnormal humerus morphologyHPOHP:0031095
- Very frequent (80% to 99% of cases)
- Abnormal morphology of ulnaHPOHP:0040071
- Very frequent (80% to 99% of cases)
- Abnormal shoulder morphologyHPOHP:0003043
- Very frequent (80% to 99% of cases)
- Abnormality of the elbowHPOHP:0009811
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the radiusHPOHP:0006501
- Very frequent (80% to 99% of cases)
Show the remaining 13
- Hand polydactylyHPOHP:0001161
- Frequent (30% to 79% of cases)
- Short 4th metacarpalHPOHP:0010044
- Frequent (30% to 79% of cases)
- Short 5th metacarpalHPOHP:0010047
- Frequent (30% to 79% of cases)
- Abnormal cardiovascular system morphologyHPOHP:0030680
- Occasional (5% to 29% of cases)
- Abnormal palate morphologyHPOHP:0000174
- Occasional (5% to 29% of cases)
- Abnormality of the dentitionHPOHP:0000164
- Occasional (5% to 29% of cases)
Where it sits
Other names
2 names
Resolves to: heart-hand syndrome type 2
- Also called
- atriodigital dysplasia type 2Tabatznik syndrome