ORPHA:1528
Craniotelencephalic dysplasia
- Body system
- Bone diseases
- Inheritance pattern
- Not documented in Orphadata
- Typical age of onset
- Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:1528 is classified under "Bone diseases" in the Orphanet nomenclature.
Common signs
- Global developmental delay
- Craniosynostosis
- Frontal bossing
- Hydrocephalus
- Microcephaly
- Visual impairment