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Barakat Syndrome

Abstract

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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

No subdivisions found.

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.

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.

Organizations related to Barakat Syndrome

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