Conditions / Syndrome
cerebrooculofacioskeletal syndrome 4
info · Syndrome
A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC1 gene on chromosome 19q13.
Signs and symptoms
- Premature closure of fontanelles
- Hypertonia
- Flared metaphysis
- Failure to thrive in infancy
- Camptodactyly of finger
- Blepharophimosis
- Nystagmus
- Brisk reflexes
- Posteriorly rotated ears
- Hyperreflexia