Conditions / Syndrome
Van Maldergem syndrome 1
info · Syndrome
A Van Maldergem syndrome that has_material_basis_in homozygous mutation in the DCHS1 gene on chromosome 11p15.
Signs and symptoms
- Hypotonia
- Feeding difficulties
- Global developmental delay
- Camptodactyly
- Sensorineural hearing impairment
- Conductive hearing impairment
- Wide anterior fontanel
- Microtia
- Periventricular nodular heterotopia
- Micrognathia