Biemond syndrome

Biemond syndrome
Synonyms Brachydactyly-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

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]

References

  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. PMC 1734378. PMID 10874630.
  2. ↑ https://rarediseases.org/rare-diseases/bardet-biedl-syndrome/
Classification
External resources
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