clinical features
Last reviewed 01/2018
- Bardet-Biedl syndrome is a recessive multi-system genetic disorder that primarily affects vision, renal function, limb development, intelligence and growth.
Clinical features
- many children born with BBS have obvious deformities at birth; these can include genital abnormalities, limb defects and classical facial features. The diagnosis of BBS is however, often delayed until other signs of the syndrome present. These include retinal degeneration in early childhood. Leaning difficulties, obesity at school age and, as the child passes through adolescence into adulthood, they may also develop progressive renal failure and fertility problems including primary amenorrhoea in females
- clinical features include:
- at birth:
- genital abnormalities
- limb defects
- facial features
- early
childhood:
- obesity
- retinal degeneration
- mental health issues
- adolescence and adulthood:
- primary amenorrhoea
- infertility
- progressive renal disease
- at birth:
Genital abnormalities associated with BBS
Limb defects associated with BBS
Facial Features associated with BBS