Pfeiffer syndrome
ORPHA:710· ICD-10 Q87.0
Definition
An acrocephalosyndactyly associated with craniosynostosis, midfacial hypoplasia, hand and foot malformation with a wide range of clinical expression and severity. Most of the affected patients show various other associated manifestations.
- Prevalence
- Unknown
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal