Medical Dictionary

Bardet–Biedl syndrome

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noun Bar·det–Biedl syndrome \bär-ˈdā-ˈbē-dəl-\

Medical Definition of Bardet–Biedl syndrome

  1. :  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 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

Biographical Note for bardet–biedl syndrome

Bardet

,

Georges Louis

(1885–1970), French physician. For his 1920 graduation thesis at the University of Paris, Bardet published the first description of the genetic disorder that now bears his name and that of endocrinologist Artur Biedl.

Biedl

,

Artur

(1869–1933), German physician. Biedl published a description of the syndrome in 1922 that elaborated upon an earlier description by American ophthalmologists John Laurence and Robert Moon. Biedl is best known for his classic work (1910) on endocrine secretion in which he established that the adrenal cortex is essential for life.


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