ORPHA:93259
Pfeiffer syndrome type 2
- Body system
- Bone diseases
- Inheritance pattern
- Autosomal dominant, Not applicable
- Typical age of onset
- Antenatal, Neonatal
- Estimated prevalence
- Unknown (Worldwide)
- Rarity class
- Unknown
ORPHA:93259 is classified under "Bone diseases" in the Orphanet nomenclature.
Common signs
- High palate
- Malar flattening
- Hypertelorism
- High forehead
- Proptosis
- Limitation of joint mobility