SMITH LEMLI OPITZ SYNDROME
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ALTERNATE NAMES
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SLO Syndrome; SLOS; RSH Syndrome; DHCR7 Deficiency; Smith-Lemli-Optiz Syndrome Type
II
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DESCRIPTION
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Smith Lemli Opitz Syndrome (SLOS) is an inherited genetic disorder that results in an enzyme deficiency (7-dehydrocholesterol
reductase, or 7-DHC reductase) necessary for cholesterol metabolism. Toxic byproducts
of disrupted cholesterol synthesis build up in the blood, nervous system, and other
tissues, disrupting the growth and development of many body systems. SLOS is characterized
by multiple congenital malformations that are so severe that the fetus is often miscarried
or still-born, or the infant dies within the first weeks of life. Surviving infants
have dysmorphic facial features, microcephaly, toe abnormalities, and developmental
delay. Many affected children have features of autism, and physical malformations
of the heart, lungs, kidneys, gastrointestinal tract, and genitalia. Feeding difficulties
and failure to thrive are common. Vision loss due to cataracts and optic nerve abnormalities,
and hearing loss may also occur.
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DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND
ICD-9-CM/ICD-10-CM
CODING
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Diagnostic testing: A definitive diagnosis of SLOS is by the measurement of plasma sterols, including
cholesterol and genetic testing for evidence of mutations in the DHCR7 gene.
Physical findings:
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Characteristic facial features such as broad nose, small lower jaw, and low set ears;
and
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Hypotonia (floppy muscle tone).
These infants may also have:
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Webbing of the second and third toes (syndactyly);
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Extra fingers or toes (polydactyly);
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ICD-9: 272.8
ICD-10: E78.72
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PROGRESSION
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SLOS is a genetic condition that is present prior to birth but has signs that are
so subtle that detection is not made until later childhood. Most cases identified
at birth or shortly after birth are due to obvious birth defects. Mildly affected
individuals may have only minor physical abnormalities with learning and behavior
problems Some children with SLOS may have more severe intellectual impairments, multi-organ
system failure, and behavior problems that can include antisocial, self-destructive,
or violent acts; or withdrawal, self-stimulation, and autism.
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TREATMENT
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There is no current cure for SLOS. Treatment is supportive and may include surgery
to repair physical conditions, such as heart defects, cleft palate, or foot deformities.
Hearing aids may benefit those with hearing loss. Gastrostomy feeding may be necessary
for nutritional needs.
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SUGGESTED PROGRAMMATIC ASSESSMENT*
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Suggested MER for Evaluation:
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Clinical history and examination that describes diagnostic features of the impairment;
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Imaging studies of affected organs (brain, kidneys, heart, or lungs); and
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Psychological testing with evidence of intellectual impairment.
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Suggested Listings for Evaluation:
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DETERMINATION
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LISTING
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REMARKS
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Meets
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110.08 A
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110.08 B
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Equals
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* Adjudicators may, at their discretion, use the Medical Evidence of Record or the
listings suggested to evaluate the claim. However, the decision to allow or deny the
claim rests with the adjudicator.
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