Rare Zebra

Rare disease search prototype built on Orphanet data

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ORPHA:2163

Holoprosencephaly-craniosynostosis syndrome

Also called Camero-Lituania-Cohen syndrome, Genoa syndrome

Body system
Bone diseases
Inheritance pattern
Not documented in Orphadata
Typical age of onset
Antenatal, Neonatal
Estimated prevalence
<1 / 1 000 000 (Worldwide)
Rarity class
<1 / 1 000 000

ORPHA:2163 is classified under "Bone diseases" in the Orphanet nomenclature.

Common signs

  • Brachycephaly
  • Microcephaly
  • Epicanthus
  • Facial asymmetry
  • Strabismus
  • Upslanted palpebral fissure