Biemond syndrome

This syndrome is similar to Bardet–Biedl syndrome (BBS). http://omim.org/entry/210350

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 & Symptoms

The side effects and seriousness of Bardet-Biedl disorder fluctuates significantly even among people inside their 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. PMC 1734378 Freely accessible. PMID 10874630. doi:10.1136/jmg.36.6.437.
  2. ↑ https://rarediseases.org/rare-diseases/bardet-biedl-syndrome/
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