Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Smith Lemli Opitz Syndrome


Synonyms of Smith Lemli Opitz Syndrome
  • DHCR7 abnormality
  • RSH Syndrome
  • SLOS
  • SLO syndrome

Disorder Subdivisions



    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
    • MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
      150 Custer Court
      Green Bay WI 54301-1243
      Phone #: 920-336-5333
      800 #: 877-336-5333
      e-mail: mums@netnet.net
      Home page: http://www.netnet.net/mums/
    • Madisons Foundation
      PO Box 241956
      Los Angeles CA 90024
      Phone #: 310-264-0826
      800 #: N/A
      e-mail: getinfo@madisonsfoundation.org
      Home page: http://www.madisonsfoundation.org
    • Opitz, John M., M.D.
      Division of Medical Genetics
      Salt Lake City UT 84132
      Phone #: 801-581-8943
      800 #: --
      e-mail: john.opitz@hsc.utah.edu
      Home page: N/A
    • Smith-Lemli-Opitz/RSH Foundation
      Box 212
      Georgetown MA 01833
      Phone #: 978-352-5885
      800 #: --
      e-mail: info@smithlemliopitz.org
      Home page: http://www.smithlemliopitz.org
    • The Arc (a national organization on mental retardation)
      1010 Wayne Ave
      Silver Spring MD 20910
      Phone #: 301-565-3842
      800 #: 800-433-5255
      e-mail: info@thearc.org
      Home page: http://www.thearc.org/



    For a Complete Report

    This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html