Conditions / Genetic

Smith-Lemli-Opitz syndrome

info · Genetic · ICD-10: E78.72

Signs and symptoms

Pyloric stenosis
Hypoalbuminemia
Elevated circulating 7-dehydrocholesterol concentration
Posteriorly rotated ears
Microcephaly
2-3 toe syndactyly
Penoscrotal hypospadias
Partial agenesis of the corpus callosum
Low-set ears
Hepatic steatosis

Also known as: Rutledge lethal multiple congenital anomaly syndrome; Smith-Opitz-Inborn syndrome