No test is available. Appropriate tests are currently under development. Clinical Description Symptoms include general growth retardation, developmental delay, and a variety of malformations. 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.