ORPHA:1555
Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
Also called Beare-Stevenson cutis gyrata syndrome
- Body system
- Bone diseases
- Inheritance pattern
- Autosomal dominant
- Typical age of onset
- Antenatal, Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:1555 is classified under "Bone diseases" in the Orphanet nomenclature.
Common signs
- Turricephaly
- Dolichocephaly
- Abnormality of the face
- Malar flattening
- Hearing abnormality
- Macrotia