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At birth, these babies are often small for gestational (time spent in the womb) age, may have very poor muscle tone, and/or a distinctive, shrill cry. There are a variety of physical features that may be present and every child with this disease will exhibit different physical characteristics with varying severity. Possible features include a small head, small chin, droopy eyelids, lazy eye, cataracts, low-set ears, conjoined toes, extra digits, cleft palate, heart murmur or respiratory distress related to heart or lung abnormalities. Malformations of the digestive system may also be present and usually symptoms are evident within the first few months of life. Examples of these symptoms include vomiting, feeding problems, constipation, and electrolyte disturbances. Males with this disease may also exhibit a malformation of the penis known as hypospadias or have undescended testicles. Unfortunately, brain development is compromised as a result of the cholesterol deficiency and children usually exhibit some sort of neurological impairment such as behavioral problems, vision or hearing loss and usually some degree of mental retardation. Mildly affected individuals may exhibit only subtle facial malformations and learning disabilities, whereas severely affected individuals may have complete sex reversal, lethal cardiac and brain malformations, cleft palate, and multi-organ system failure. Any of these severe manifestations of the disease may lead to miscarriage during pregnancy, still birth at the time of delivery, or death of the newborn within the first few weeks of life.
Great resource for the genetic background of SLOS as well as associated symptoms and methods of prenatal diagnosis.
Information about the role of cholesterol, the status of current research and diagnostic procedures.
The Arc of the United States
A national organization devoted to the advancement of the mentally handicapped with information about federal and state resources and much more.
Disorder Zone Archives
Personal stories of other affected families and some good links.
Good starting point for useful general information.
NIH Genetics Website
A lot of excellent medical information and links to helpful resources.