Genitopatellar syndrome

Genitopatellar syndrome is a rare disorder marked by congenital flexion contractures of the lower limbs, abnormal or missing kneecaps and anomalies of the urinary and genital organs. Other features include a small head, structural brain differences such as absence of the corpus callosum, severe developmental and intellectual disability, kidney cysts or hydronephrosis, heart and bowel anomalies, club feet and feeding difficulties. It is inherited in an autosomal dominant fashion and arises from mutations in the KAT6B gene on chromosome 10, which encodes a histone acetyltransferase thought to regulate early development. The Say-Barber-Biesecker variant of Ohdo syndrome overlaps with it and involves the same gene. Diagnosis rests mainly on molecular genetic testing. There is no cure, and care targets the individual problems through early educational and speech therapy, physical therapy, orthopedic release of contractures and thyroid hormone replacement. It was first reported in 1988 by Goldblatt and colleagues.