ORPHA:198
Occipital horn syndrome
- Body system
- Skin diseases
- Inheritance pattern
- X-linked recessive
- Typical age of onset
- Childhood, Infancy, Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:198 is classified under "Skin diseases" in the Orphanet nomenclature.
Common signs
- Large fontanelles
- Delayed cranial suture closure
- Abnormality of the face
- Abnormal skull morphology
- Hyperextensible skin
- Intellectual disability