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Smith-Lemli-Opitz Syndrome
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Smith-Lemli-Opitz syndrome (SLOS) is characterized by prenatal and postnatal growth retardation, characteristic face, genital and distal limb anomalies, and intellectual disability. There is a weak correlation between the metabolic disturbances with clinical severity and with genotype, but wide ranges exist within each group. SLOS is infrequently described in adults. The associated malformations are usually treated in infancy and childhood and have only limited influences in adulthood. Main physical problems are scoliosis and pectus formation, sun sensitivity, and disturbed hearing and vision. Rarely adrenal insufficiency is present. Marked cognitive impairment and behavioral problems including self-harm and aggressive outbursts may have a significant impact on quality of life. Cholesterol supplementation decreases sun sensitivity, but cognition and behavior seem to respond less well.
Title: Smith-Lemli-Opitz Syndrome
Description:
Smith-Lemli-Opitz syndrome (SLOS) is characterized by prenatal and postnatal growth retardation, characteristic face, genital and distal limb anomalies, and intellectual disability.
There is a weak correlation between the metabolic disturbances with clinical severity and with genotype, but wide ranges exist within each group.
SLOS is infrequently described in adults.
The associated malformations are usually treated in infancy and childhood and have only limited influences in adulthood.
Main physical problems are scoliosis and pectus formation, sun sensitivity, and disturbed hearing and vision.
Rarely adrenal insufficiency is present.
Marked cognitive impairment and behavioral problems including self-harm and aggressive outbursts may have a significant impact on quality of life.
Cholesterol supplementation decreases sun sensitivity, but cognition and behavior seem to respond less well.
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