Conditions / Syndrome
orofaciodigital syndrome V
info · Syndrome
An orofaciodigital syndrome that is characterized by postaxial polydactyly and median cleft of the upper lip and has_material_basis_in homozygous mutation in the DDX59 gene on chromosome 1q32.
Signs and symptoms
- Prominent fingertip pads
- Cutaneous syndactyly
- Lobulated tongue
- Hypertelorism
- Intellectual disability
- Thick eyebrow
- Feeding difficulties
- Generalized-onset seizure
- Global developmental delay
- Bilateral tonic-clonic seizure with generalized onset
Also known as: OFD5; orofaciodigital syndrome Thurston type; polydactyly, postaxial, with median cleft of upper lip