Bardet-Biedl syndrome
ORPHA:110· ICD-10 Q87.8
Definition
A rare genetic multisystem disorder characterized by the variable association of retinal dystrophy, obesity, polydactyly, genitourinary and kidney anomalies, learning disability and hypogonadism, with a wide spectrum of other minor manifestations.
- Prevalence
- 1-9 / 100 000
- Inheritance
- Autosomal recessive, Oligogenic
- Age of onset
- Antenatal, Childhood, Infancy, Neonatal