It is a genetic developmental disorder with clinical diversity characterized by hypoparathyroidism, sensorineural deafness and renal disease. Affected people usually present with hypocalcaemia, tetany, or afebrile convulsions at any age.Hearing loss is usually bilateral and may range from mild to profound impairment. Renal disease includes nephrotic syndrome, cystic kidney, renal dysplasia, hypoplasia or aplasia, pelvicalyceal deformity, vesicoureteral reflux, chronic kidney disease, hematuria, proteinuria and renal scarring. Other reported features include: intellectual disability, polycystic ovaries, particular distinct facial characteristics, ischaemic stroke and retinitis pigmentosa.
Barakat syndrome
Catel–Manzke syndrome
Eiken syndrome
De Barsy syndrome
Satoyoshi syndrome
Leschke syndrome
Shapiro syndrome
Temple–Baraitser syndrome