Conditions / Syndrome
cranioectodermal dysplasia 4
info · Syndrome
A cranioectodermal dysplasia that has_material_basis_in compound heterozygous mutation in the WDR19 gene on chromosome 4p14.
Signs and symptoms
- Hypermetropia
- Broad phalanx of the toes
- Narrow chest
- Rod-cone dystrophy
- Cutis laxa
- Hip dysplasia
- Joint hypermobility
- Pes valgus
- Pectus excavatum
- Visual impairment