Medical Dictionary

Bardet-Biedl syndrome

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

medical Definition of Bardet-Biedl syndrome

: 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

Biographical Note for bardet-biedl syndrome

  • 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.

  • Seen and Heard

    What made you want to look up Bardet-Biedl syndrome? Please tell us where you read or heard it (including the quote, if possible).

    Love words? Need even more definitions?

    Subscribe to America's largest dictionary and get thousands more definitions and advanced search—ad free!

    Love words? Need even more definitions?

    Subscribe to America's largest dictionary and get thousands more definitions and advanced search—ad free!