Bardet-Biedl Syndrome is a rare genetic disorder with multi-organ manifestations. It is classified as a ciliopathy.
Synonyms: Laurence Moon syndrome, Laurence Moon Bardet Biedl syndrome
Genes affected: multiple (21 or more)
Inheritance: autosomal recessive
Clinical findings:
(1) rod cone dystrophy with night blindness
(2) postaxial polydactyly
(3) central obesity
(4) mental retardation and learning difficulties
(5) genital abnormalities (hypogonadism in males, genital abnormalities in females)
(6) renal dysfunction
Additional findings may include:
(1) hearing loss
(2) dental malocclusion
(3) ataxia
(4) speech delay
(5) other ophthalmic disorders
(6) cardiovascular anomalies
(7) hepatic disorder
(8) craniofacial dysmorphism
(9) metabolic syndrome
(10) psychiatric disorder
