Conditions / Syndrome
Cornelia de Lange syndrome 4
info · Syndrome
A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the RAD21 gene, which encodes a component of the cohesin complex, on chromosome 8q24.
Signs and symptoms
- Flat face
- Lobar holoprosencephaly
- Thin upper lip vermilion
- Ventriculomegaly
- Microcephaly
- Wide nasal bridge
- Global developmental delay
- 2-3 toe syndactyly
- Long philtrum
- Smooth philtrum
Also known as: CDLS4; Cornelia De Lange syndrome 4 with or without midline brain defects