LOWE SYNDROME Meaning and
Definition
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Lowe syndrome, also known as oculocerebrorenal syndrome, is a rare genetic disorder that primarily affects males. It is characterized by a range of symptoms that impact the eyes, brain, and kidneys. Lowe syndrome is caused by mutations in the OCRL gene, leading to the deficiency of the enzyme phosphatidylinositol 4,5-bisphosphate 5-phosphatase and impairing cellular function.
One prominent feature of Lowe syndrome is the development of congenital cataracts, clouding the lens of the eyes and leading to visual impairment. Additionally, individuals may experience intellectual disability, developmental delays, and behavioral problems. The disorder also affects the functioning of the kidneys, leading to the loss of important substances such as proteins and glucose in the urine. This can contribute to kidney dysfunction and may eventually progress to end-stage renal disease.
Other common symptoms of Lowe syndrome include muscle weakness, hypotonia (low muscle tone), and movement disorders. Affected individuals might also have bone abnormalities, such as thinning or weakening of the bones. Furthermore, they may develop abnormalities in the shape and structure of the face, including a prominent forehead, wide-set eyes, and a small jaw.
Lowe syndrome is a progressive disorder, meaning that symptoms tend to worsen over time. Treatment for Lowe syndrome is aimed at managing symptoms and supporting affected individuals accordingly. This may include the use of corrective lenses, physical and occupational therapy, medications for seizures or behavioral issues, and regular monitoring of kidney function. In some cases, kidney transplant may be required to address end-stage renal disease.
Common Misspellings for LOWE SYNDROME
- kowe syndrome
- powe syndrome
- oowe syndrome
- liwe syndrome
- lkwe syndrome
- llwe syndrome
- lpwe syndrome
- l0we syndrome
- l9we syndrome
- loqe syndrome
- loae syndrome
- lose syndrome
- loee syndrome
- lo3e syndrome
- lo2e syndrome
- loww syndrome
- lows syndrome
- lowd syndrome
- lowr syndrome
- low4 syndrome
Etymology of LOWE SYNDROME
The word "Lowe Syndrome" is named after Dr. Charles Upton Lowe, an ophthalmologist and geneticist who first described the condition in 1952. Dr. Lowe identified a series of male infants with a distinctive pattern of birth defects and abnormal eye findings. Over time, this condition became known as Lowe Syndrome in honor of his significant contribution to the field.
