Conditions / Syndrome
cranioectodermal dysplasia 2
info · Syndrome
A cranioectodermal dysplasia that has_material_basis_in compound heterozygous mutation in the WDR35 gene on chromosome 2p24.
Signs and symptoms
- Hypertelorism
- Simple ear
- Microdontia
- Pectus excavatum
- Low-set ears
- Widely spaced teeth
- Fused teeth
- Rhizomelia
- Brachydactyly
- Inguinal hernia