Shprintzen-Goldberg syndrome
ORPHA:2462· ICD-10 Q87.8
Definition
A rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant, Multigenic/multifactorial, Not applicable
- Age of onset
- Antenatal, Infancy, Neonatal