Rare Zebra

Rare disease search prototype built on Orphanet data

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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