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