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]}

• 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

• 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

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This page was last edited on 14 November 2023, at 16:23