Poor feeding is observed in even mildly affected individuals. Most defects are thought to result from a lack of sufficient cholesterol during development. Severity ranges from prenatal mortality to mild involvement allowing school attendance. Incidence 1in 20,000 or higher in Europe, the United States and Canada. Lower rates in Asian and African populations.
Higher incidence occurs in populations of European descent.
Yes, diagnosis is based on general poor growth, developmental delay, and congenital malformations may prompt a blood test for 7-dehydrocholesterol. Currently none available unless requested by a physician or family. Clinical Outcome without Screening and Treatment Affected person shows continued failure to thrive and developmental delay. With correct diagnosis and treatment, many children with SLO can learn to walk, talk, and acquire basic living skills. Independent living is not likely.