Bardet–Biedl syndrome

Also known as: BBS; Laurence–Moon–Bardet–Biedl syndrome

Ciliopathy with obesity, retinal dystrophy, polydactyly, renal disease and hypogonadism.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Pediatric endocrinology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, infancy
Gene(s) involved: BBS1, BBS10, BBS11, BBS12, BBS13, BBS14, BBS15, BBS16, BBS17, BBS18, BBS19, BBS2, BBS20, BBS21, BBS3, BBS4, BBS5, BBS6, BBS7, BBS8, BBS9

Etiology & mechanism

Defective primary cilia function.

Gene(s) involved (21)

BBS1BBS10BBS11BBS12BBS13BBS14BBS15BBS16BBS17BBS18BBS19BBS2BBS20BBS21BBS3BBS4BBS5BBS6BBS7BBS8BBS9

Symptoms & signs (8)

anosmiadiabeteshypogonadismlearning difficultyobesitypolydactylyrenal anomaliesretinitis pigmentosa

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