Conditions / Syndrome
cranioectodermal dysplasia 1
info · Syndrome
A cranioectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the IFT122 gene on chromosome 3q21.
Signs and symptoms
- Full cheeks
- Protuberant abdomen
- Low-set ears
- Rhizomelia
- Brachydactyly
- Short thorax
- Protruding ear
- Narrow chest
- Wide nasal bridge
- Telecanthus