Conditions / Syndrome
orofaciodigital syndrome XIX
info · Syndrome
An orofaciodigital syndrome that is characterized by tongue nodules; dental anomalies including congenital absence or abnormal shape of incisors; narrow, high-arched or cleft palate; retrognathia; and digital anomalies that has_material_basis_in homozygous mut
An orofaciodigital syndrome that is characterized by tongue nodules; dental anomalies including congenital absence or abnormal shape of incisors; narrow, high-arched or cleft palate; retrognathia; and digital anomalies that has_material_basis_in homozygous mutation in the SCNM1 gene on chromosome 1q21.
Signs and symptoms
- Toe syndactyly
- Retrognathia
- Wide nasal bridge
- Tongue nodules
- Postaxial hand polydactyly
- Chin with horizontal crease
- Type A brachydactyly
- Postaxial foot polydactyly
- Epicanthus
- Narrow palate
Also known as: Oral-facial-digital syndrome type XIX