ABOUT THE SMITH-LEMLI-OPITZ FOUNDATION
In 1988, 37 families with children with SLOS began a network to exchange experiences and information about Smith-Lemli-Opitz syndrome. Since then, the group has grown to more than 800 families from around the world. In addition to informal networking and social media websites such as Facebook, the SLOS Foundation sponsors regular biennial national scientific and family medical conferences where physicians, scientists, and parents and caregivers can learn more from each other. The Foundation also promotes and funds research into Smith-Lemli-Opitz syndrome and strives to increase awareness about the syndrome.
SMITH-LEMLI-OPITZ SYNDROME
Smith-Lemli-Opitz syndrome is a genetic disorder that affects the development of children both before and after birth. The syndrome was first described in 1964 in three boys with poor growth, developmental delay, and a common pattern of congenital malformations including cleft palate, genital malformations, and polydactyly (extra fingers and toes). Initially referred to as the “RSH syndrome” after the initials of the first three patients, the syndrome is now better known for the names of the three geneticists who first described it – Smith-Lemli-Opitz syndrome (SLOS). Although SLOS had been known as a genetic disorder, the cause was not known until 1993, when scientists and clinicians discovered that children with SLOS are unable to produce sufficient amounts of cholesterol, an essential nutrient for proper growth and development. It is unclear how much cholesterol may be passed from mother to fetus during pregnancy, and since the body makes most of its own cholesterol after birth, children with SLOS continue to have trouble with many areas of development throughout their lifetimes. The discovery of the abnormal cholesterol metabolism in SLOS has made possible not only a laboratory test for a more precise diagnosis of SLOS but also a rationale for treatment.
CONTACT INFORMATION:
Smith-Lemli-Opitz
c/o Gretchen Noah, President
PO Box 10598 Fargo, ND 58106-0598
noahfamily@outlook.com Facebook: SLOSyndrome
SOME OF OUR CHILDREN WITH SLOS
The Smith-Lemli-Opitz Foundation is a registered charitable organization. Donations are tax-exempt under IRS 501(c)(3), ID #23-2635206.
