NORD gratefully acknowledges Amin J. Barakat, MD, FAAP, Clinical Professor of Pediatrics, Georgetown University Medical Center and George Washington University School of Medicine and Health Sciences for the preparation of 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 hypocalcemia, 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 disorder 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), renal tubular acidosis, and various congenital kidney anomalies including cystic kidney, renal dysplasia (disorganized kidney tissue), hypoplasia (abnormally small kidney), or agenesis (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), Hirschsprung disease, ocular abnormalities (retinitis pigmentosa, nystagmus, pseudopapilledima, ptosis), psychomotor delay and growth failure.