Barakat Syndrome

National Organization for Rare Disorders, Inc.

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It is possible that the main title of the report Barakat Syndrome is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

Barakat syndrome is a rare genetic disorder with clinical diversity, characterized by hypoparathyroidism (decreased function of the parathyroid glands which are small endocrine glands in the neck whose main function is to maintain the body calcium level), nerve deafness and kidney disease. Patients may present with hypocalcemia, involuntary contraction of muscles (tetany), or afebrile convulsions at any age. Hearing loss is usually bilateral and may range from mild to profound impairment. Reported kidney abnormalities include nephrotic syndrome (kidney disorder resulting in loss of large amounts of protein in the urine), chronic kidney disease, hematuria (blood in the urine), proteinuria (increased protein excretion in the urine), renal tubular acidosis, and various congenital kidney anomalies including cystic kidney, renal dysplasia (disorganized kidney tissue), hypoplasia (abnormally small kidney), or agenesis (absence of kidney), and urologic abnormalities such as pevicalyceal deformity, and vesicoureteral reflux.

Other abnormalities associated with the syndrome include female genital malformations (agenesis of vagina and uterus, ovarian cyst), Hirschsprung disease, ocular abnormalities (retinitis pigmentosa, nystagmus, pseudopapilledima, ptosis), psychomotor delay and growth failure.

Supporting Organizations

American Society for Deaf Children

800 Florida Avenue NE
Washington, DC 20002-3695
Tel: (866)895-4206
Fax: (410)795-0965
Tel: (800)942-2732

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311

Hypoparathyroidism Association, Inc.

PO Box 2258
Idaho Falls, ID 83403
Tel: (208)524-3857
Fax: (205)524-3857
Tel: (866)213-0394

National Association of the Deaf

8630 Fenton Street
Suite 820
Silver Springs, MD 20910
Tel: (301)587-1788
Fax: (301)587-1791

National Kidney Foundation

30 East 33rd Street
New York, NY 10016
Tel: (212)889-2210
Fax: (212)689-9261
Tel: (800)622-9010

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

Last Updated:  4/30/2015
Copyright  2015 National Organization for Rare Disorders, Inc.