Smith-Lemli-Opitz Syndrome (SLOS) – a genetic metabolic disease inherited from parents. It is caused by a mutation in the DHCR7 gene – is characterized by a number of developmental disorders due to high levels of cholesterol precursors: 7-dehydrocholesterol (DHCR7) and 8-dehydrocholesterol (DHCR8). A child suffering from SLOS is born from a normal pregnancy and symptoms of the disease appear only after delivery or a few days later. In newborns, many health problems can be observed, e.g. related to nutrition and digestive system functions (lack of sucking reflex, difficulty swallowing or vomiting). Additionally, there is reduced muscle tone, poor weight gain, characteristic facial and craniofacial features, drooping eyelids or very characteristic syndactyly of the 2nd and 3rd toes (fused skin of the toes), hypospadias and internal system defects of varying severity. Intellectual disabilities and autistic behaviors may also be observed in patients.

Key words: Smith-Lemli-Opitz Syndrom, congenital defects, metabolic disease, SLOS rehabilitation.