ORPHA:783
Rubinstein-Taybi syndrome
Also called Broad thumb-hallux syndrome, Broad thumbs-halluces syndrome
- Body system
- Neurological diseases
- Inheritance pattern
- Autosomal dominant, Unknown
- Typical age of onset
- Antenatal, Neonatal
- Estimated prevalence
- 1-9 / 1 000 000 (Netherlands)
- Rarity class
- 1-9 / 1 000 000
ORPHA:783 is classified under "Neurological diseases" in the Orphanet nomenclature.
Common signs
- Brachydactyly
- Intellectual disability
- Global developmental delay
- Joint hypermobility
- Failure to thrive in infancy
- Short stature