E78.72

Approximate Synonyms

• Smith lemli opitz syndrome

Clinical Information

• A rare, autosomal recessive syndrome caused by mutations in the dhcr7 gene. It is characterized by deficiency of the enzyme 3 beta-hydroxysterol-delta 7-reductase resulting in defects in the cholesterol synthesis. It is manifested with multiple congenital malformations, including facial abnormalities, microcephaly, and syndactyly. Behavioral abnormalities may also be present.

• A syndrome with variable characteristics marked mainly by short stature, mental deficiency, microcephaly, postaxial polydactyly, cleft palate, cardiovascular defects, genital malformations, and other abnormalities associated with defective cholesterol metabolism. The fundamental biochemical abnormality appears to be a primary or secondary deficiency of 7-dhc-reductase 3-beta-hydroxysteroid-delta7-reductase causing deficient synthesis of cholesterol. Two types are recognized: type i comprising the milder manifestations. Type ii representing severe forms, consisting of male pseudohermaphroditism, polydactyly with frequent early lethality. The designation rsh represents initials of the surnames of the first three patients in whom the syndrome was first observed.

• An autosomal recessive disorder of cholesterol metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase, the enzyme that converts 7-dehydrocholesterol to cholesterol, leading to an abnormally low plasma cholesterol. This syndrome is characterized by multiple congenital abnormalities, growth deficiency, and intellectual disability.

• Autosomal recessive disorder characterized by multiple congenital anomalies including microcephaly, mental retardation, unusual facies, and genital abnormalities; the biochemical defect is a lack of 7-dehydrocholesterol-delta-7-reductase, resulting in abnormally high levels of 7-dehydrocholesterol and low levels of cholesterol.

Details

• E78.72 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes.

• The 2023 edition of ICD-10-CM E78.72 became effective on October 1, 2022.

• This is the American ICD-10-CM version of E78.72 – other international versions of ICD-10 E78.72 may differ.