ORPHA:93258
Pfeiffer syndrome type 1
Also called Classic Pfeiffer syndrome
- Body system
- Bone diseases
- Inheritance pattern
- Autosomal dominant, Not applicable
- Typical age of onset
- Antenatal, Neonatal
- Estimated prevalence
- Unknown (Worldwide)
- Rarity class
- Unknown
ORPHA:93258 is classified under "Bone diseases" in the Orphanet nomenclature.
Common signs
- High palate
- Brachycephaly
- Hypertelorism
- High forehead
- Short nose
- Depressed nasal bridge