National Organization for Rare Disorders, Inc.
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
- HDR syndrome
- 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.
National Kidney Foundation
30 East 33rd Street
New York, NY 10016
American Society for Deaf Children
PO Box 3355
Gettysburg, PA 17325
National Association of the Deaf
8630 Fenton Street, Suite 820
Silver Spring, MD 20910
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024
For a Complete Report
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html