Conditions / Syndrome
orofaciodigital syndrome VIII
info · Syndrome
An orofaciodigital syndrome that is characterized by tongue lobulation, hypoplasia of the epiglottis, cleft lip, polydactyly, short stature and intellectual deficit, and has_material_basis_in X-linked recessive inheritance.
Signs and symptoms
- Milia
- Cleft palate
- Strabismus
- Recurrent aspiration pneumonia
- Short stature
- Median cleft upper lip
- Global developmental delay
- Hamartoma
- Polydactyly
- Telecanthus
Also known as: OFD8