Biemond syndrome

From Wikipedia, the free encyclopedia
Jump to navigation Jump to search
Biemond syndrome
Other namesBrachydactyly-nystagmus-cerebellar ataxia syndrome

The Bardet–Biedl syndrome (BBS) is a ciliopathic human genetic disorder that produces many effects and affects many body systems. It is characterized principally by obesity, retinitis pigmentosa, polydactyly, hypogonadism, and kidney failure in some cases.[1] Historically, mental retardation has been considered a principal symptom but is now not regarded as such.

Signs and symptoms[edit]

The symptoms of Bardet-Biedl disorder vary among people within a family. Affected people won't have the greater part of the indications talked about underneath. Moreover, the seriousness of particular indications may shift enormously also. The effects of this disorder include cone-rod dystrophy, postaxial polydactyly, truncal obesity, kidney abnormalities and learning difficulties.[2]

Diagnosis[edit]

Treatment[edit]

References[edit]

  1. ^ Beales P, Elcioglu N, Woolf A, Parker D, Flinter F (1 June 1999). "New criteria for improved diagnosis of Bardet–Biedl syndrome: results of a population survey". J. Med. Genet. 36 (6): 437–46. doi:10.1136/jmg.36.6.437 (inactive 26 September 2019). PMC 1734378. PMID 10874630. Archived from the original on 14 March 2008. Retrieved 11 September 2013.
  2. ^ "Bardet-Biedl Syndrome".

External links[edit]

Classification
External resources