Rubinstein-Taybi syndrome
ORPHA:783· ICD-10 Q87.2
Definition
A rare, genetic malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, and broad thumbs and halluces), short stature, intellectual disability and behavioral characteristics.
- Prevalence
- 1-9 / 1 000 000
- Inheritance
- Autosomal dominant, Unknown
- Age of onset
- Antenatal, Neonatal