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Copyright 1986, 1988, 1990, 1994, 1995, 1996, 1997, 1998, 2006, 2007
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
- Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring MD 20910
Phone #: 301-565-3842
800 #: 800-433-5255
e-mail: info@thearc.org
Home page: http://www.thearc.org/
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: ordr@od.nih.gov
Home page: http://rarediseases.info.nih.gov/Default.aspx
- 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
2C 412 SOM
50 North Medical Dr
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
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