Conditions / Syndrome
Bardet-Biedl syndrome 21
info · Syndrome
A Bardet-Biedl syndrome that is characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment and that has_material_basis_in homozygous mutation in the C8ORF37 gene on chromosome 8q22.
Signs and symptoms
- Constriction of peripheral visual field
- Abnormality of the dentition
- Delayed speech and language development
- Hyperautofluorescent macular lesion
- Postaxial hand polydactyly
- Horseshoe kidney
- Retinal thinning on OCT
- Blindness
- Hypoplasia of the fovea
- Reduced amplitude of dark-adapted bright flash electroretinogram a-wave