Important It is possible that the main title of the report Barakat Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Hypoparathyroidism, sensorineural deafness, and renal disease
Nephrosis, nerve deafness, and hypoparathyroidism
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 hypocalcaemia, 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 damage 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), and various congenital kidney anomalies including cystic kidney, renal dysplasia (disorganized kidney tissue), hypoplasia (abnormally small Kidney), or aplasia (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), ocular abnormalities (retinitis pigmentosa, nystagmus, pseudopapilledima, ptosis), psychomotor delay and growth failure.
Hypoparathyroidism Association, Inc. PO Box 2258 Idaho Falls, ID 83403 Tel: (866)213-0394 Fax: (205)524-3857 Tel: (866)213-0394 Email: firstname.lastname@example.org. email@example.com. firstname.lastname@example.org. email@example.com Internet: http://www.hypopara.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: firstname.lastname@example.org Internet: http://www.kidney.org
American Society for Deaf Children 800 Florida Avenue NE 2047 Washington, DC 20002-3695 Tel: (866)895-4206 Fax: (410)795-0965 Tel: (800)942-2732 Email: email@example.com Internet: http://www.deafchildren.org
National Association of the Deaf 8630 Fenton Street Suite 820 Silver Springs, MD 20910 USA Tel: (301)587-1788 Fax: (301)587-1791 TDD: (301)587-1789 Email: NADinfo@nad.org Internet: http://www.nad.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 TDD: (888)205-3223 Internet: http://rarediseases.info.nih.gov/GARD/
Madisons Foundation PO Box 241956 Los Angeles, CA 90024 Tel: (310)264-0826 Fax: (310)264-4766 Email: firstname.lastname@example.org Internet: http://www.madisonsfoundation.org
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, 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. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
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.
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Last Updated: 1/31/2012 Copyright 2008, 2012 National Organization for Rare Disorders, Inc.
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