National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Barakat Syndrome is not the name you expected.
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.
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
- Email: firstname.lastname@example.org
- Website: http://www.deafchildren.org
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
- Website: http://rarediseases.info.nih.gov/GARD/
Hypoparathyroidism Association, Inc.
- PO Box 2258
- Idaho Falls, ID 83403
- Tel: (208)524-3857
- Fax: (205)524-3857
- Tel: (866)213-0394
- Email: email@example.com
- Website: http://www.hypopara.org
National Association of the Deaf
- 8630 Fenton Street
- Suite 820
- Silver Springs, MD 20910
- Tel: (301)587-1788
- Fax: (301)587-1791
- Email: firstname.lastname@example.org
- Website: http://www.nad.org
National Kidney Foundation
- 30 East 33rd Street
- New York, NY 10016
- Tel: (212)889-2210
- Fax: (212)689-9261
- Tel: (800)622-9010
- Email: email@example.com
- Website: http://www.kidney.org
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 www.rarediseases.org 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.
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