Bardet-Biedl syndrome

noun

Bar·det-Biedl syndrome bär-ˈdā-ˈbē-dᵊl-

: a genetic disorder that is a ciliopathy characterized typically by obesity, retinal dysfunction and degeneration, learning disabilities, the presence of extra fingers or toes, abnormalities of the kidney, liver, and heart, short stature, and subnormal development of the genital organs

Note: Bardet-Biedl syndrome is inherited as an autosomal recessive trait requiring that both parents pass on a copy of the defective gene on a chromosome other than a sex chromosome. While it has been associated with mutations in at least 14 different genes, most forms of the disease are caused by a single mutation in only one gene.

compare laurence-moon syndrome

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“Bardet-Biedl syndrome.” Merriam-Webster.com Medical Dictionary, Merriam-Webster, https://www.merriam-webster.com/medical/Bardet-Biedl%20syndrome. Accessed 29 Nov. 2024.

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