Ayazi syndrome

Ayazi syndrome
Other names	Choroideremia-deafness-obesity syndrome
This condition is inherited in an X-linked recessive manner.

Ayazi syndrome (or Chromosome 21 Xq21 deletion syndrome) ^[1] is a syndrome characterized by choroideremia, congenital deafness and obesity.

Signs and symptoms

The presentation for this condition is as follows:^{[ citation needed ]}

• Intellectual disability
• Deafness at birth
• Obesity
• Choroideremia
• Impaired vision
• Progressive degeneration of the choroid

Genetics

Ayazi syndrome's inheritance pattern is described as x-linked recessive. Genes known to be deleted are CHM and POU3F4, both located on the Xq21 locus. ^[1]

References

1. "OMIM Entry - # 303110 - CHOROIDEREMIA, DEAFNESS, AND MENTAL RETARDATION". www.omim.org. Retrieved 2015-09-28.

• Ayazi S (1981). "Choroideremia, obesity, and congenital deafness". Am J Ophthalmol. 92 (1): 63–69. doi:10.1016/s0002-9394(14)75909-4. PMID   7258279.
• Merry DE, Lesko JG, Sosnoski DM, Lewis RA, Lubinsky M, Trask B, van den Engh G, Collins FS, Nussbaum RL (1989). "Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21". Am J Hum Genet. 45 (4): 530–540. PMC   1683514 . PMID   2491012.

External links

• Online Mendelian Inheritance in Man (OMIM): 303110