An extensive article about Smith-Lemli-Opitz syndrome, a multiple congenital anomalies/mental retardation syndrome caused by a defect in cholesterol synthesis.
NORD: Smith Lemli Opitz Syndrome
Offers a brief description, the synonyms and further resources.
The Smith-Lemli-Opitz/RSH Foundation was created in 1988 to give a group of 37 families with SLO/RSH children a network to exchange experiences and information about SLO/RSH. Since then, the group has grown to more than 200 families in the United States and around the world. The Foundation, in conjunction with vounteers, set up e-mail groups for families to contact each other informally. This provides immediate support for families to ask questions, share in joyful times and share in grief or frustration. Additionally, the Foundation provides regular newsletters, family support, family contact information, specialist contact information, information about ongoing research, and it sponsors regular national meetings where physicians, scientists, and parents can meet to learn more from each other. A primary goal of the Foundation is to raise and provide funds to promote research into treatments and ultimately a cure for SLO/RSH Syndrome.
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