Bardet–Biedl syndrome
Bardet–Biedl syndrome (BBS) is a ciliopathic human genetic disorder that produces many effects and affects many body systems. It is characterized by rod/cone dystrophy, polydactyly, central obesity, hypogonadism, and kidney dysfunction in some cases. Historically, slower mental processing has also been considered a principal symptom but is now not regarded as such.
Bardet–Biedl syndrome | |
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Other names | Biedl-Bardet syndrome |
This condition is often inherited via autosomal recessive manner (including digenic recessive); but epigenetic phenomena also cause some of the variation seen in BBS. | |
Specialty | Medical genetics |
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