Lowes Syndrone only occurs in males as it is caused by a damaged X chromosone. It is a rare genetic condition that causes physical and mental handicaps and medical problems. Also called the oculo-cerebro-renal (OCRL) syndrome, it was first described in 1951 by Dr. Charles Lowe and colleagues. Lowe syndrome is caused by a defective gene that results in the deficiency of an enzyme called phosphatidylinositol 4,5-biphosphate. This enzyme is essential to normal metabolic processes that take place in a certain part of the cell called the Golgi apparatus. Because of the enzyme deficiency, cell functions that are regulated by the Golgi are abnormal, leading to various developmental defects in LS including cataracts and kidney and brain problems. How the enzyme deficiency leads to these defects is not yet completely understood, common symptons are: Cataracts in both eyes, found at birth or shortly after, Glaucoma (in about half the cases), Poor muscle tone and delayed motor development, Mental retardation, ranging from borderline to severe, Seizures (in about half the cases), Severe behavior problems (in some cases), Kidney involvement ("Leaky" kidneys, or renal tubular acidosis), Short stature, Tendency to develop rickets, bone fractures, scoliosis and joint problems, Expected life span of about 30-40 years if no complications. Generally, they are affectionate and sociable, love music, and have a great sense of humor.
This infomation was copyed and abbraviated by me from
http://www.lowesyndrome.org. It would appear this girl has many of the symptons mentioned above but it is genetically impossible for her to have LS if she is female.
