Conditions / Syndrome
orofaciodigital syndrome IV
info · Syndrome
An orofaciodigital syndrome that is characterized by dysmorphic facies, the development of harmartomas of the tongue, polydactyly and limb dysplasia, has_material_basis_in autosomal recessive inheritance of mutations in the TCTN3 gene.
Signs and symptoms
- Epicanthus
- Cleft palate
- Toe syndactyly
- Cerebral atrophy
- Tongue nodules
- Short stature
- Brachydactyly
- Porencephalic cyst
- Hand polydactyly
- Lobulated tongue
Also known as: Baraitser-Burn syndrome; OFD4