ORPHA:353277
Rubinstein-Taybi syndrome due to CREBBP mutations
- Body system
- Neurological diseases
- Inheritance pattern
- Autosomal dominant
- Typical age of onset
- Antenatal, Neonatal
- Estimated prevalence
- Not documented in Orphadata
- Rarity class
- Not documented in Orphadata
ORPHA:353277 is classified under "Neurological diseases" in the Orphanet nomenclature.
Common signs
- High palate
- Facial grimacing
- Hypertelorism
- Micrognathia
- Low-set ears
- Downslanted palpebral fissures