Smith-Magenis syndrome is a rare genetic disorder caused by the deletion of the RAI1 gene on chromosome 17, resulting in physical and mental health problems. Symptoms include characteristic facial features, developmental problems, sleep difficulties, and behavioral outbursts. There is no cure, but treatment can improve symptoms and quality of life.
Smith-Magenis syndrome is a rare genetic disorder that can cause a number of different physical defects and mental health problems. The condition results from a random deletion of a particular gene on chromosome 17 during early fetal development. People with Smith-Magenis syndrome are typically shorter than average and have broad, pronounced facial features. Most sufferers also have some degree of mental retardation and are prone to aggressive behavior problems. With dedicated treatment and support, many patients are able to function somewhat independently in society and achieve a normal life expectancy.
Decades of genetic research have pinpointed the cause of Smith-Magenis syndrome. A protein-coding gene called RAI1 is partially or totally absent on chromosome 17 of affected individuals. While the exact function of RAI1 is not fully understood, it is clear that it contributes to both physical and mental development. The condition is rarely inherited; new cases tend to appear spontaneously with no family history of Smith-Magenis syndrome or other related genetic disorders.
Children born with Smith-Magenis syndrome may not experience symptoms right away. In most cases, the diagnosis isn’t made until early childhood. Most children with the disorder have characteristic facial features such as broad cheeks, a pronounced lower jaw, a protruding upper lip, and a flat nose. Additionally, they may be shorter than their peers, have poor muscle tone, and show early signs of scoliosis. Most children have developmental problems that impair their ability to learn to speak, read, and get along with others.
Sleep problems are also common with Smith-Magenis syndrome. Children and adults often have difficulty falling asleep at night and staying asleep until morning, and may be excessively tired and lethargic during the day. Behavioral outbursts, such as throwing tantrums, hitting oneself or others, and screaming, are also common. Sufferers also tend to quickly lose interest in activities and become very impatient.
Modern advances in genetic testing allow specialists to identify missing RAI1 genes in blood samples. However, some cases are misdiagnosed, which can lead to delayed or improper treatment. In general, it’s important to get more than one professional opinion from doctors anytime a child exhibits symptoms of Smith-Magenis syndrome.
There is no cure for the disorder, but steps can be taken to improve the patient’s symptoms and quality of life. Medications are often prescribed to improve concentration, attention span, and sleep difficulties. Spine surgery may be needed if scoliosis causes pain and limited range of motion. In addition to medical care, many young patients require constant family support for eating, bathing, dressing and using the toilet. Ongoing physical therapy and speech training can help patients gain independence and confidence.
Protect your devices with Threat Protection by NordVPN
