ABOUT SMITH-LEMLI-OPITZ SYNDROME
SMITH-LEMLI-OPITZ SYNDROME IN A NUTSHELL
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Smith-Lemli-Opitz Syndrome is a genetic condition which can be treated, but has no cure. It can present in a range of ways and in differing levels of severity.
GENETICS
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SLO Syndrome is caused by a recessive mutation in the DHCR7 gene on chromosome 11. This gene codes for an enzyme, 7-dehydrocholesterol reductase, which is used in the final step of cholesterol production in the body. As a result of this disruption in the pathway, cholesterol is low or absent, causing systemic problems.
SLO Syndrome is inherited in an autosomal recessive pattern, which means that two copies of the gene, one from each parent, are required for child to have the condition. Most parents are unaware that they are carriers of the condition until they have a child with SLO Syndrome. Unaffected siblings of SLO children have a 50% chance of being carriers.
Image from www.smithlemliopitz.org
SYMPTOMS OF SLO SYNDROME
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The symptoms of SLO Syndrome vary from child to child. These can include any of:
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low muscle tone
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microcephaly
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ptosis
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micrognathia
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low-set and rotated ears
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high palate
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cleft lip/palate
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brain malformations
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polydactyly or syndactyly of the hands and feet
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congenital heart defects
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renal, liver, pulmonary and eye abnormalities
In Rhylan's case, he has a number of these symptoms, including the heart defects. He is actually a lucky boy, though, because SLO Syndrome can sometimes manifest severely enough to be lethal.
TREATMENT
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SLO Syndrome cannot be cured, but there are some treatments available. The most common treatment is cholesterol supplementation in the diet. This is Rhylan's present treatment, and he is responding well to it.
