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Smith Lemli Opitz Syndrome

Abstract

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Synonyms of Smith Lemli Opitz Syndrome

DHCR7 abnormality
RSH Syndrome
SLOS
SLO syndrome

Disorder Subdivisions

No subdivisions found.

General Discussion

Smith-Lemli-Opitz syndrome (SLOS) is a variable genetic disorder that is characterized by slow growth before and after birth, small head (microcephaly), mild to moderate mental retardation and multiple birth defects including particular facial features, cleft palate, heart defects, fused second and third toes, extra fingers and toes and underdeveloped external genitals in males. The severity of SLOS varies greatly in affected individuals, even in the same family, and some have normal development and only minor birth defects. SLOS is caused by a deficiency in the enzyme 7-dehydrocholesterol reductase that results in an abnormality in cholesterol metabolism. SLOS is inherited as an autosomal recessive genetic disorder.

Organizations related to Smith Lemli Opitz Syndrome

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