- January 19, 2025
- By drzaarofficial1@gmail.com
- 11
Understanding Smith-Lemli-Opitz Syndrome (SLOS)
What is Smith-Lemli-Opitz Syndrome?
Smith-Lemli-Opitz Syndrome (SLOS) is a rare genetic disorder that affects multiple body systems, caused by a defect in cholesterol metabolism. It occurs due to mutations in the DHCR7 gene, which leads to a deficiency in the enzyme 7-dehydrocholesterol reductase. This enzyme is critical for converting 7-dehydrocholesterol (7-DHC) into cholesterol. The resulting low cholesterol levels and accumulation of 7-DHC disrupt normal development and function of various organs.
Symptoms of Smith-Lemli-Opitz Syndrome
The symptoms of SLOS vary in severity and can affect multiple aspects of growth, development, and physical features:
Physical features:
- Distinctive facial features such as a small head (microcephaly), broad nasal bridge, and drooping eyelids (ptosis).
- Cleft palate or high-arched palate.
- Small or underdeveloped genitalia in males.
- Extra fingers or toes (polydactyly), or fused digits (syndactyly).
Developmental and behavioral symptoms:
- Intellectual disabilities or developmental delays.
- Low muscle tone (hypotonia).
- Behavioral problems, including hyperactivity, autism-like behaviors, or self-injurious behavior.
Other symptoms:
- Feeding difficulties or poor weight gain in infancy.
- Sensitivity to light (photosensitivity).
- Structural heart, kidney, or lung defects.
Consult with Dr. Zaar
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FAQs
1. What causes Smith-Lemli-Opitz Syndrome?
SLOS is caused by mutations in the DHCR7 gene, which impairs the body’s ability to produce cholesterol. Cholesterol is essential for cell membrane structure, hormone production, and brain development.
2. How is SLOS inherited?
SLOS is an autosomal recessive condition, meaning both parents must carry one copy of the mutated gene to pass it on. If both parents are carriers, there is a 25% chance of the child inheriting the condition.
3. How is Smith-Lemli-Opitz Syndrome diagnosed?
- Prenatal diagnosis: High levels of 7-DHC in amniotic fluid can indicate SLOS.
- Postnatal diagnosis: Blood tests showing elevated 7-DHC levels and genetic testing to confirm DHCR7 mutations.
- Imaging and physical exams: To assess developmental abnormalities and organ function.
4. How is Smith-Lemli-Opitz Syndrome treated?
There is no cure for SLOS, but treatments focus on managing symptoms:
- Cholesterol supplementation: To improve cholesterol levels and support growth and development.
- Behavioral and developmental therapies: Including occupational, physical, and speech therapy.
- Medical interventions: Surgery to correct anatomical abnormalities (e.g., cleft palate, heart defects).
- Nutritional support: Feeding therapy or gastrostomy tube for feeding difficulties.
5. Can SLOS symptoms improve with treatment?
Yes, cholesterol supplementation can improve growth, behavior, and development in some cases, although the response varies by individual.
6. How common is Smith-Lemli-Opitz Syndrome?
SLOS is rare, affecting approximately 1 in 20,000 to 60,000 births worldwide. It is more common in populations of European descent.
7. Can SLOS be detected before birth?
Yes, SLOS can be detected through prenatal genetic testing if there is a family history or if abnormalities are identified on ultrasound. Elevated 7-DHC levels in amniotic fluid are also indicative.
8. Is there a cure for SLOS?
There is no cure, but ongoing research aims to improve understanding and treatment options for this condition.
9. Are there complications associated with SLOS?
Complications depend on the severity of the condition and may include:
- Feeding difficulties leading to malnutrition.
- Increased susceptibility to infections.
- Severe intellectual disabilities in more severe cases.
10. What is the life expectancy for someone with SLOS?
Life expectancy varies based on the severity of symptoms and the effectiveness of medical care. Children with milder forms of SLOS can live into adulthood, while severe cases may result in early mortality due to complications like organ defects.