E78.72
Smith-Lemli-Opitz syndrome
Clinical Classification Guidelines
Medical Intelligence & Overview
Smith-Lemli-Opitz syndrome (SLOS) is a rare genetic disorder that affects multiple parts of the body. It is caused by a metabolic issue related to cholesterol processing, leading to a variety of physical and developmental challenges. The condition is inherited in an autosomal recessive manner, meaning both parents must carry and pass on the defective gene for their child to be affected. SLOS can vary greatly in severity, with some individuals experiencing mild symptoms and others facing more significant health and developmental concerns.
Causes & Symptoms
Clinical Causes: Mutations in the DHCR7 gene, which provides instructions for making an enzyme needed to produce cholesterol in the body Inheritance from both parents who carry the faulty gene, following an autosomal recessive inheritance pattern
Key Symptoms: Distinct facial features such as a small head, ptosis (drooping eyelids), and a broad nasal bridge Growth delays, resulting in short stature and microcephaly (small head size) Developmental delays, including intellectual disabilities and speech challenges Structural abnormalities in the heart, kidneys, and other organs Skin issues like dry skin or eczema Physical deformities such as clubfoot or cleft palate Hearing or vision impairments Behavioral issues such as irritability or self-injury in some cases
Diagnostic & Treatment
Diagnosis Path: Diagnosis of SLOS involves a combination of clinical evaluation and laboratory testing. Blood tests measuring cholesterol levels often reveal low serum cholesterol, which is characteristic of the condition. Genetic testing is used to identify mutations in the DHCR7 gene. Prenatal screening and diagnosis may also be available if there is a known family history of the disorder. Imaging studies can help reveal structural abnormalities in organs or skeletal features associated with the syndrome.
Treatment Protocols: There is no cure for Smith-Lemli-Opitz syndrome; treatment focuses on managing symptoms and supporting development. Interventions may include:
Clinical Advice & FAQs
Billing Guidance
Is E78.72 a billable ICD-10 code?
Yes, E78.72 is a specific, billable code that can be used to indicate a diagnosis for reimbursement purposes.
Documentation
How do I report E78.72?
Clinical documentation must specify the nature of Smith-Lemli-Opitz syndrome and any associated comorbidities for accurate reporting.
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