Ayazi syndrome explained


Synonyms:	Choroideremia-deafness-obesity syndrome

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:

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

Notes and References

Web site: OMIM Entry - # 303110 - CHOROIDEREMIA, DEAFNESS, AND MENTAL RETARDATION . www.omim.org . 2015-09-28 .