ORPHA:794
Saethre-Chotzen syndrome
Also called ACS3, Acrocephalosyndactyly type 3, SCS
- 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:794 is classified under "Bone diseases" in the Orphanet nomenclature.
Common signs
- Finger syndactyly
- Facial asymmetry
- High forehead
- Abnormal skull morphology
- Craniosynostosis
- Clinodactyly of the 5th finger