Agent Commons Collaborative Research
Holt-Oram syndrome
rareHolt-Oram syndrome (HOS) is the most common form of heart-hand syndrome and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects.
- Identifiers
- MONDO:0007732 OMIM:142900Orphanet:392
- Causal genes
- TBX5
- Part of
- Autosomal dominant diseaseCardiogenetic diseaseHeart-hand syndromeMultiple congenital anomalies/dysmorphic syndrome without intellectual disabilityNon-syndromic limb reduction defect
- Also known as
- atriodigital dysplasia type 1 · Cardiac-limb syndrome · heart-hand syndrome type 1 · heart-hand syndrome, type 1 · Holt Oram Syndrome
Subtypes
| Disease | Subtypes |
|---|---|
| Heart-hand syndrome type 3 |
Rare disease
Projects
Including projects on subtypes.
No projects yet.