Conditions / Syndrome
orofaciodigital syndrome XX
info · Syndrome
An orofaciodigital syndrome that is characterized by bilateral oral clefting, polydactyly/syndactyly, cerebral malformations, cardiac defects, anorectal anomalies, and shortening of the long bones that has_material_basis_in homozygous or compound heterozygous
An orofaciodigital syndrome that is characterized by bilateral oral clefting, polydactyly/syndactyly, cerebral malformations, cardiac defects, anorectal anomalies, and shortening of the long bones that has_material_basis_in homozygous or compound heterozygous mutation in the RAB34 gene on chromosome 17q11.
Signs and symptoms
- Preaxial hand polydactyly
- Preaxial foot polydactyly
- Cleft palate
- Cerebellar hypoplasia
- Increased nuchal translucency
- Micrognathia
- Anal atresia
- Agenesis of corpus callosum
- Hypertelorism
- Mesoaxial hand polydactyly