Ayazi syndrome (or Chromosome 21 Xq21 deletion syndrome) is a syndrome characterized by choroideremia, congenital deafness and obesity.
Signs and symptoms The presentation for this condition is as follows:
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.
References
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