Smith-Lemli-Opitz syndrome Save

Understanding Smith-Lemli-Opitz Syndrome: Causes and Symptoms

Smith-Lemli-Opitz Syndrome (SLOS) is a rare genetic disorder that affects the body's ability to produce cholesterol. It is caused by a mutation in the DHCR7 gene that is responsible for the production of the enzyme 7-dehydrocholesterol reductase. This enzyme plays a crucial role in the synthesis of cholesterol in the body.

Individuals with SLOS have a reduced ability to produce cholesterol, which can result in a variety of physical and developmental abnormalities. Some of the common symptoms of SLOS include:

1. Facial abnormalities: Individuals with SLOS may have a small head, a flattened face, and a small jaw.
2. Developmental delays: Children with SLOS may experience delays in motor skills and language development.
3. Cognitive impairment: Individuals with SLOS may have learning disabilities and intellectual disabilities.
4. Behavioral problems: Individuals with SLOS may exhibit hyperactivity, aggression, and self-injurious behavior.
5. Gastrointestinal issues: Individuals with SLOS may experience digestive problems such as constipation and reflux.

SLOS is an autosomal recessive disorder, which means that an individual must inherit two copies of the mutated DHCR7 gene – one from each parent – in order to develop the condition. If an individual inherits only one copy of the mutated gene, he or she may be a carrier of the disorder but will not exhibit any symptoms.

Diagnosis of SLOS is typically made through genetic testing, which can confirm the presence of the DHCR7 mutation. Early diagnosis is important in order to provide appropriate medical care and support to individuals with SLOS and their families.

In conclusion, Smith-Lemli-Opitz Syndrome is a rare genetic disorder that affects cholesterol production in the body. It can result in a variety of physical and developmental abnormalities, and is caused by a mutation in the DHCR7 gene. Early diagnosis and appropriate medical care are important for individuals with SLOS and their families.