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"Resources" on this report.
Copyright 2008
NORD is very grateful to Amin J. Barakat, MD, FAAP, Clinical Professor of Pediatrics/Nephrology, Georgetown University Medical Center, for the preparation of this report.
Synonyms of Barakat Syndrome
- HDR syndrome
- Hypoparathyroidism, sensorineural deafness, and renal disease
- Nephrosis, nerve deafness, and hypoparathyroidism
Disorder Subdivisions
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 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.
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Organizations related to Barakat Syndrome
- American Society for Deaf Children
800 Florida Avenue NE, #2047
Washington DC 20002-3695
Phone #: 866-895-4206
800 #: 800-942-2732
e-mail: asdc@deafchildren.org
Home page: http://www.deafchildren.org
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: http://rarediseases.info.nih.gov/GARD/EmailForm.aspx
Home page: http://rarediseases.info.nih.gov/GARD
- Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: getinfo@madisonsfoundation.org
Home page: http://www.madisonsfoundation.org
- National Association of the Deaf
8630 Fenton Street, Suite 820
Silver Spring MD 20910
Phone #: 301-587-1788
800 #: --
e-mail: NADinfo@nad.org
Home page: http://www.nad.org
- National Kidney Foundation
30 East 33rd Street
New York NY 10016
Phone #: 212-889-2210
800 #: 800-622-9010
e-mail: info@kidney.org
Home page: http://www.kidney.org
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