2025 ICD-10-CM code E78.72
(Active) Effective Date: N/A Endocrine, Nutritional and Metabolic Diseases - Sterol and other lipid metabolism disorders 4 Feed
Smith-Lemli-Opitz syndrome (SLOS) is a genetic disorder affecting cholesterol production, leading to developmental and physical abnormalities.
Medical necessity is established by the presence of characteristic clinical features and confirmed diagnosis of SLOS.This justifies ongoing monitoring, management of associated health issues, therapies to address developmental delays, and surgical interventions for anatomical abnormalities.
Diagnosis involves physical examination, plasma sterol measurement, and genetic testing (DHCR7 gene). Management is multidisciplinary, addressing specific manifestations. Treatment may involve cholesterol supplementation, supportive care, and surgical interventions for physical malformations.
In simple words: Smith-Lemli-Opitz syndrome (SLOS) is a genetic condition where the body doesn't make enough cholesterol. This causes problems with growth and development, leading to various health issues and physical differences.
Smith-Lemli-Opitz syndrome (SLOS), caused by a deficiency in 7-dehydrocholesterol reductase, disrupts cholesterol biosynthesis. This leads to a buildup of toxic byproducts, affecting growth and development of multiple body systems.Clinical manifestations range from mild to severe and include physical malformations, intellectual disability, behavioral issues, and potential prenatal complications.
Example 1: A newborn presents with microcephaly, a cleft palate, and 2-3 toe syndactyly.Low cholesterol levels and genetic testing confirm SLOS., A child exhibits developmental delays, autism-like features, and distinctive facial characteristics.Further investigation reveals SLOS., A prenatal ultrasound detects multiple fetal anomalies. Amniocentesis and chorionic villus sampling identify the DHCR7 mutation, indicating SLOS.
Thorough documentation of physical findings, developmental milestones, laboratory results (cholesterol and 7-DHC levels), and genetic testing is crucial for accurate diagnosis.Additional documentation might include imaging studies (e.g., echocardiogram, brain MRI) and specialist consultations.
- Specialties:Genetics, Pediatrics, Endocrinology, Cardiology, and other specialties depending on the specific manifestations of the syndrome.
- Place of Service:Inpatient Hospital, Outpatient Hospital, Office, and others as appropriate