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.
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
Email: email@example.com. firstname.lastname@example.org. email@example.com. firstname.lastname@example.org
National Kidney Foundation
30 East 33rd Street
New York, NY 10016
American Society for Deaf Children
800 Florida Avenue NE
Washington, DC 20002-3695
National Association of the Deaf
8630 Fenton Street
Silver Springs, MD 20910
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024