Bardet-Biedl syndrome

Alternative eponyms

Related people

A syndrome of obesity, mental retardation, polydactyly, retinitis pigmentosa with vision loss progressing to blindness, and hypogonadism.

Description

Comprises obesity, mental retardation, polydactyly, retinitis pigmentosa with vision loss progressing to blindness, and hypogonadism. These features are not always present in any particular patient and they vary greatly in severity, age of appearance and rate of progression. Both sexes. From birth. Aetiology unknown. Inheritance is autosomal recessive.

The term Laurence-Moon-Biedl-Bardet syndrome is incorrect, as Biedl-Bardet and Laurence-Moon are two different entities. The Laurence-Moon syndrome is similar, but lacks polydactyly and obesity, while neurological dysfunction is often present.

Bibliography

  • G. Bardet:
    Sur un syndrome d'obésité infantile avec polydactylie et rétinite pigmentaire. (Contribution a l'étude des formes cliniques de l'obésité hypophysaire).
    Thèse de Paris, 1920, No 479.
  • A. Biedl
    Ein Geschwisterpaar mit adiposo-genitaler Dystrophie.
    Deutsche medicinische Wochenschrift, Berlin, 1922, 48: 1630.

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