RSH Syndrome

Crucial
It is possible that the main title of the report Smith Lemli Opitz Syndrome is not the name you anticipated. Please check the synonyms detailing to find the alternating name(s) as well as condition subdivision(s) covered by this record.

Basic synonyms

• RSH Disorder
• SLO syndrome
• SLOS
• DHCR7 abnormality

Disorder Neighborhoods

• None

General Conversation
Smith-Lemli-Opitz disorder (SLOS) is a variable genetic disorder that is defined by slow growth prior to and also after birth, little head (microcephaly), mild to modest mental deficiency and also multiple birth defects including particular facial attributes, cleft palate, heart flaws, fused 2nd and 3rd toes, extra fingers as well as toes and underdeveloped exterior genital areas in men. The seriousness of SLOS differs greatly in damaged people, even in the exact same household, and some have regular advancement and also only minor birth defects. SLOS is caused by a shortage in the enzyme 7-dehydrocholesterol reductase that leads to an abnormality in cholesterol metabolism. SLOS is inherited as an autosomal recessive genetic disorder.