Conditions / Syndrome
Cockayne syndrome A
info · Syndrome
A Cockayne syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 8 excision repair cross-complementing protein on chromosome 5q11.
Signs and symptoms
- Severe short stature
- Short stature
- Hypotonia
- Cataract
- Postnatal growth retardation
- Global developmental delay
- Joint contracture
- Sensorineural hearing impairment
- Prominent nose
- Failure to thrive
Also known as: Cockayne syndrome type 1; Cockayne syndrome type I