ORPHA:710
Pfeiffer syndrome
Also called ACS5, Acrocephalosyndactyly type 5
- Body system
- Bone diseases
- Inheritance pattern
- Autosomal dominant
- Typical age of onset
- Antenatal, Neonatal
- Estimated prevalence
- 1-9 / 100 000 (Europe)
- Rarity class
- 1-9 / 100 000
ORPHA:710 is classified under "Bone diseases" in the Orphanet nomenclature.
Common signs
- Ptosis
- Hypoplasia of the zygomatic bone
- Broad thumb
- Turricephaly
- Hypertelorism
- High forehead