The topic 7-Dehydrocholesterol Reductase Deficiency Disorder you are seeking is a synonym, or alternative name, or is closely related to the medical condition Smith-Lemli-Opitz Syndrome.

Quick Summary:

• Smith-Lemli-Opitz Syndrome (SLOS) is an inherited developmental disorder, in which the body is unable to produce enough cholesterol, because of shortage of 7-dehydrocholesterol reductase enzyme, which catalyzes the last step in cholesterol synthesis
• Since cholesterol is involved in embryonic development, the synthesis of certain hormones and vitamin D3, its deficiency leads to developmental and metabolic disorders
• Mutation(s) in the DHCR7 gene cause deficiency in 7-dehydrocholesterol reductase enzyme, and lead to Smith-Lemli-Opitz Syndrome. The disorder is inherited in an autosomal recessive manner and is predominantly reported in Caucasian populations with a family history of the disorder
• The disorder is characterized by multiple congenital anomalies, intellectual abnormalities, and behavioral defects resembling autism spectrum disorders, which can either be mild (type I) or severe (type II)
• A diagnosis of Smith-Lemli-Opitz Syndrome can be made prenatally, through ultrasound of the developing fetus, followed by amniocentesis, and genetic testing. After birth of the child, blood tests to check cholesterol levels and genetic molecular testing may help in the diagnosis
• There is no cure for Smith-Lemli-Opitz Syndrome. Use of cholesterol supplements, feeding aids, and surgery to repair certain congenital defects may be recommended
• The outcome depends on the severity of symptoms. Spontaneous miscarriages are known to occur. Cardiac or renal complications may also lead to fatalities. Those with milder symptoms may be able to lead a near-normal quality of life

Please find comprehensive information on Smith-Lemli-Opitz Syndrome regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE.