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Smith-Lemli-Opitz syndrome

Smith-Lemli-Opitz syndrome
Classification & external resources
ICD-10 Q87.1
OMIM 270400
DiseasesDB 12223
eMedicine ped/2117 
MeSH C16.131.077.860

Smith-Lemli-Opitz syndrome (also SLOS or 7-dehydrocholesterol reductase deficiency) is a developmental disorder that affects many parts of the body.



This condition is characterized by distinctive facial features, small head size (microcephaly), mental retardation or learning disabilities, and behavioral problems. Malformations of the heart, lungs, kidneys, gastrointestinal tract, and genitalia are also common. Infants with Smith-Lemli-Opitz syndrome have weak muscle tone (hypotonia), experience feeding difficulties, and tend to grow more slowly than other infants. Most affected individuals have fused second and third toes (syndactyly), and some have extra fingers or toes (polydactyly).


  Smith-Lemli-Opitz syndrome affects an estimated 1 in 20,000 to 40,000 births. This condition is most common in Caucasians of European ancestry. It is very rare among African and Asian populations. This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered.


Mutations in the DHCR7 gene cause Smith-Lemli-Opitz syndrome. The DHCR7 gene makes an enzyme called 7-dehydrocholesterol reductase. This enzyme is responsible for the final step in the production of cholesterol. Cholesterol is an essential nutrient that is necessary for normal embryonic development. Cholesterol is also a structural component of cell membranes and the protective substance covering nerve cells (myelin). Additionally, cholesterol plays an important role in the production of certain hormones and digestive acids.

Mutations in the DHCR7 gene reduce or eliminate the activity of 7-dehydrocholesterol reductase, preventing cells from producing enough cholesterol. A lack of this enzyme also allows potentially toxic byproducts of cholesterol production to build up in the blood and other tissues. The combination of low cholesterol levels and an accumulation of other substances likely disrupts the growth and development of many body systems. It is not known, however, how this disturbance in cholesterol production leads to the specific features of Smith-Lemli-Opitz syndrome.

Associated conditions

A 2006 study of 14 children with Smith-Lemli-Opitz syndrome reported that most children with SLOS have an autism spectrum disorder. SLOS appears to have the most consistent relationship with autism of any single-gene disorder.[1]

Notable cases

According to CNN, on July 24th, 2007 a jury awarded a Florida couple, Daniel and Amara Estrada, whose sons are afflicted with Smith-Lemli-Opitz syndrome, 21 million dollars in damages. The Estradas claimed that Dr. Boris Kousseff failed to diagnose their first son's genetic disorder, leading to them having another son with the disorder.[2]


  1. ^ Sikora DM, Pettit-Kekel K, Penfield J, Merkens LS, Steiner RD (2006). "The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome". Am J Med Genet A 140 (14): 1511–8. doi:10.1002/ajmg.a.31294. PMID 16761297.
  2. ^ LOCAL - - Retrieved on 2007-09-01.

This article incorporates public domain text from the Genetics Home Reference, a service of the U.S. National Library of Medicine

short stature (Aarskog-Scott syndrome, Cockayne syndrome, Cornelia de Lange Syndrome, Dubowitz syndrome, Noonan syndrome, Robinow syndrome, Silver-Russell dwarfism, Seckel syndrome, Smith-Lemli-Opitz syndrome)

limbs (Holt-Oram syndrome, Klippel-Trenaunay-Weber syndrome, Nail-patella syndrome, Rubinstein-Taybi syndrome, Sirenomelia, VACTERL association)

overgrowth (Beckwith-Wiedemann syndrome, Sotos syndrome, Weaver syndrome)

Marfan syndrome - Alport syndrome - Bardet-Biedl syndrome - Zellweger syndrome
Otherspleen: Asplenia - Splenomegaly

endocrine glands: Persistent thyroglossal duct - Thyroglossal cyst

Situs inversus - Conjoined twins

Cowden syndrome - Hamartoma
  This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Smith-Lemli-Opitz_syndrome". A list of authors is available in Wikipedia.
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