Conditions / Syndrome
Cockayne syndrome B
info · Syndrome
A Cockayne syndrome that is characterized by severe physical and mental retardation, microcephaly, progressive neurologic and retinal degeneration, skeletal abnormalities, gait defects, and sun sensitivity with no increased frequency of cancer, and that has_ma
A Cockayne syndrome that is characterized by severe physical and mental retardation, microcephaly, progressive neurologic and retinal degeneration, skeletal abnormalities, gait defects, and sun sensitivity with no increased frequency of cancer, and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 6 excision repair cross-complementing protein on chromosome 10q11.
Signs and symptoms
- Microcephaly
- Micropenis
- Deeply set eye
- Sensorineural hearing impairment
- Reduced subcutaneous adipose tissue
- Triangular face
- Polyneuropathy
- Failure to thrive
- Prominent nasal bridge
- Intrauterine growth retardation
Also known as: Cockayne syndrome 2; Cockayne syndrome type II