Conditions / Syndrome
cerebrooculofacioskeletal syndrome 3
info · Syndrome
A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous mutation in the ERCC5 gene on chromosome 13q33.
Signs and symptoms
- Microcephaly
- Arthrogryposis multiplex congenita
- Decreased fetal movement
- Rocker bottom foot
- Low-set ears
- Micrognathia
- Cutaneous photosensitivity
- Global developmental delay
- Edema
- Intrauterine growth retardation