Conditions / Syndrome
orofaciodigital syndrome IX
info · Syndrome
An orofaciodigital syndrome that is characterized by highly arched palate with bifid tongue, harmartomatous tongue, hypertelorism, telecanthus, strabismus, bifid nasal tip, short stature, bifid halluces, forked metatarsal, polydactyly, mild intellectual defici
An orofaciodigital syndrome that is characterized by highly arched palate with bifid tongue, harmartomatous tongue, hypertelorism, telecanthus, strabismus, bifid nasal tip, short stature, bifid halluces, forked metatarsal, polydactyly, mild intellectual deficit and specific retinal abnormalities, and has_material_basis_in autosomal recessive inheritance.
Signs and symptoms
- Milia
- Abnormality of the dentition
- Toe syndactyly
- Strabismus
- Recurrent aspiration pneumonia
- Short stature
- Median cleft upper lip
- Retinal coloboma
- Hamartoma
- Brain atrophy
Also known as: OFD9; orofaciodigital syndrome with retinal abnormalities