Conditions / Syndrome
Bardet-Biedl syndrome 7
info · Syndrome · ICD-10: Q87.89
A Bardet-Biedl syndrome characterized by retinitis pigmentosa, postaxial polydactyly, impaired intellectual development, obesity, renal anomalies, and hypogenitalism that has_material_basis_in homozygous mutation in the BBS7 gene on chromosome 4q27.
Signs and symptoms
- Deeply set eye
- Narrow mouth
- Malar flattening
- 2-3 toe syndactyly
- Polydactyly
- Depressed nasal bridge
- Postaxial polydactyly
- Hypertelorism
- Clinodactyly
- Hypogonadism
Also known as: BBS7