Lowe syndrome (LS) is a rare genetic condition that causes varying levels of physical and intellectual disability, along with a range of medical problems. It was first described in 1952 by Drs. Lowe, Terrey, and MacLachlan at the Massachusetts General Hospital in Boston.
Because of the three major organ systems involved (eyes, brain, and kidneys), it is also known as oculo-cerebro-renal (OCRL) syndrome. LS is caused by a change in a single gene, OCRL1, and virtually always affects boys, although exceptionally rare cases have been documented in girls.
While there is currently no cure for Lowe syndrome, many of its symptoms can be effectively managed through medication, surgery, physical and occupational therapy, and special education — and researchers are actively working to change what’s possible for the next generation.
Generally, boys with Lowe syndrome are affectionate and sociable, love music, and have a great sense of humor.