Smith Opitz Inborn Syndrome

Crucial
It is feasible that the primary title of the report Smith Lemli Opitz Disorder is not the name you anticipated. Please examine the synonyms detailing to find the alternative name(s) as well as condition neighborhood(s) covered by this report.

Words

• RSH Disorder
• SLO disorder
• SLOS
• DHCR7 abnormality

Disorder Neighborhoods

• None

General Conversation
Smith-Lemli-Opitz syndrome (SLOS) is a variable genetic disorder that is characterized by slow development prior to and after birth, little head (microcephaly), mild to modest mental retardation and also multiple birth defects including particular facial attributes, cleft palate, heart defects, merged second and also third toes, extra fingers and also toes and also underdeveloped external genital areas in men. The extent of SLOS varies considerably in affected individuals, even in the very same household, and also some have normal development and just minor birth defects. SLOS is dued to a deficiency in the enzyme 7-dehydrocholesterol reductase that leads to a problem in cholesterol metabolism. SLOS is acquired as an autosomal recessive genetic disorder.