Conditions / Syndrome
orofaciodigital syndrome I
info · Syndrome · ICD-10: Q87.0
An orofaciodigital syndrome that is characterized by malformations of the face, oral cavity, and digits, has_material_basis_in X-linked dominant inheritance of the OFD1 gene with lethality in males and is associated with polycystic kidney disease.
Signs and symptoms
- Cleft palate
- Underdeveloped nasal alae
- Milia
- Epicanthus
- Hearing impairment
- Short stature
- Median cleft upper lip
- Seizure
- Hypertelorism
- Hydrocephalus
Also known as: Papillon-Leage-Psaume syndrome; orofaciodigital syndrome 1; orofaciodigital syndrome type I