Crucial
It is feasible that the primary title of the record Smith Lemli Opitz Syndrome is not the name you anticipated. Kindly examine the basic synonyms specifying to discover the alternative name(s) as well as problem community(s) covered by this record.
Basic synonyms
- RSH Syndrome
- SLO disorder
- SLOS
- DHCR7 problem
Condition Subdivisions
- None
General Discussion
Smith-Lemli-Opitz disorder (SLOS) is a variable hereditary condition that is identified by sluggish development prior to and also after birth, tiny head (microcephaly), moderate to modest psychological retardation and also numerous birth problems consisting of specific face functions, cleft taste buds, heart problems, merged 3rd and also 2nd toes, additional fingers and also toes and also underdeveloped exterior genital areas in men. SLOS is triggered by a shortage in the enzyme 7-dehydrocholesterol reductase that results in an irregularity in cholesterol metabolic process.