What is Smith-Semli-Etzz syndrome?
Smith-Semli-Etzz syndrome is a inherited disorder that can lead to a number of developmental problems, both physically and mentally. It is a rare condition that results from the lack of enzyme, causing the lack of natural cholesterol in the body. Symptoms may range from slight problems with exploring and short figures to serious mental retardation and physical deformities. A person who is born with the condition usually enjoys lifelong problems, although doctors can try to alleviate some symptoms with dietary supplements and remedial surgery. gene on their child to be expressed. The gene responsible for the Smith-Semli-Opiitz syndrome is Unastava to produce an enzyme that normally controls cholesterol production. Without sufficient natural cholesterol, the child is exposed to a delayed, incomplete and unusual development.
A child that was born with Smith-Semli-Etzz syndrome will probably have a smaller nAverage head, very distinctive facial features and low muscle tone. Abnormal development of important internal organs, including heart and lungs, can lead to serious medical complications. Fingers or fingers can be connected together, or the child can be born with other digits. As the child ages, it will probably suffer from low cognitive capacity, communication problems, emotional instability and behavior problems.
The presence of Smith-Semli-Etvitz syndrome is usually detected before the child is born routine ultrasound. After delivery of the child, the obstetrician can confirm the diagnosis of computer tomography and perform a number of blood tests. Blood sample that reveals abnormally low cholesterol levels in the body
As with many genetic diseases, there is no clear remedy for Smith-Semli-Etzz syndrome. Treatment of choice for most patients includes regular oral doses or intravenous cholesterol supplement. Extra cholesterol can help support better growth and development even if it is veryUnlikely the patient will ever approach full mental maturity. Surgical procedures may be useful in the remedy of internal organs and structural problems. Individuals usually need to receive frequent medical controls and maintain special diet throughout their lives to ensure their health and comfort.