Ayazi syndrome

Title

Other Names:

Choroideremia deafness obesity; Choroideremia, obesity, and congenital deafness

Categories:

Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Endocrine Diseases; Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Endocrine Diseases; Eye diseases See More

Summary Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Orpha Number: 1435

Disease definition

Choroideremia-deafness-obesity syndrome is an X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state.

Visit the Orphanet disease page for more resources.

Last updated: 12/29/2014

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Chorioretinal degeneration		0200065
Choroideremia		0001139
30%-79% of people have these symptoms
Abnormal cochlea morphology		0000375
Abnormality of the Achilles tendon		0005109
Ankle clonus	Abnormal rhythmic movements of ankle	0011448
Bilateral sensorineural hearing impairment		0008619
Conductive hearing impairment	Conductive deafness Conductive hearing loss [ more ]	0000405
Delayed skeletal maturation	Delayed bone maturation Delayed skeletal development [ more ]	0002750
Dilatated internal auditory canal		0004458
Gait ataxia	Inability to coordinate movements when walking	0002066
Global developmental delay		0001263
Growth hormone deficiency		0000824
Intellectual disability, mild	Mental retardation, borderline-mild Mild and nonprogressive mental retardation Mild mental retardation [ more ]	0001256
Obesity	Having too much body fat	0001513
Optic atrophy		0000648
Peripheral visual field loss	Loss of peripheral vision	0007994
Pituitary hypothyroidism	Low thyroid gland function due to abnormal pituitary gland	0008245
Postnatal growth retardation	Growth delay as children	0008897
Progressive night blindness		0007675
Reticular pigmentary degeneration		0007937
Stapes ankylosis		0000381
Visual acuity test abnormality		0030532
5%-29% of people have these symptoms
Dysdiadochokinesis	Difficulty performing quick and alternating movements	0002075
Hypertension		0000822
Nystagmus	Involuntary, rapid, rhythmic eye movements	0000639
Renal artery stenosis	Narrowing of kidney artery	0001920
Seizures	Seizure	0001250
Strabismus	Cross-eyed Squint Squint eyes [ more ]	0000486
Upper limb muscle weakness	Decreased arm strength Weak arm [ more ]	0003484
Percent of people who have these symptoms is not available through HPO
Chorioretinal atrophy		0000533
Constriction of peripheral visual field	Limited peripheral vision	0001133
Contiguous gene syndrome		0001466
Hearing impairment	Deafness Hearing defect [ more ]	0000365
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Nyctalopia	Night blindness Night-blindness Poor night vision [ more ]	0000662
Progressive sensorineural hearing impairment		0000408
Progressive visual loss	Progressive loss of vision Progressive vision loss Progressive visual impairment Slowly progressive visual loss Vision loss, progressive Visual loss, progressive [ more ]	0000529
X-linked inheritance		0001417
X-linked recessive inheritance		0001419

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 7/1/2019

Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Ayazi syndrome. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers

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