ICD-10 Code E78.72 | Smith-Lemli-Opitz syndrome Symptoms, Diagnosis, Billing

Common symptoms include developmental delays, congenital anomalies, behavioral issues, and distinctive facial features such as low-set ears and cleft palate.

Diagnosis is typically made through clinical evaluation, family history, and genetic testing to identify mutations in the DHCR7 gene.

Treatment focuses on supportive care, including nutritional management, physical and occupational therapy, and behavioral interventions.

Yes, Smith-Lemli-Opitz syndrome is an autosomal recessive genetic disorder, meaning it can be inherited from both parents who are carriers of the mutation.