Ayazi syndrome

Medical condition

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]}

Mental retardation
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]

Diagnosis

Treatment

References

^ ^a ^b "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.