E76.02
Hurler-Scheie syndrome
Clinical Classification Guidelines
Medical Intelligence & Overview
Hurler-Scheie syndrome is a rare genetic disorder that is part of a group called mucopolysaccharidoses. It is considered a milder form of Hurler syndrome but still involves significant health challenges. The condition affects the way the body processes specific complex sugars, leading to a variety of physical and health issues. Usually inherited from parents, this syndrome manifests through a combination of developmental delays, physical abnormalities, and other health complications, often appearing in early childhood.
Causes & Symptoms
Clinical Causes: Genetic mutation affecting the enzyme sulfamidase Inherited in an autosomal recessive pattern, meaning both parents must carry and pass on the defective gene
Key Symptoms: Bone deformities and abnormal skeletal development Hearing loss Hepatosplenomegaly (enlarged liver and spleen) Joint stiffness and limited mobility Corneal clouding causing vision difficulties Distinct facial features such as a prominent forehead, flat nasal bridge, and thick lips Developmental delays with intellectual impairment in some cases Cardiac issues including valve abnormalities Respiratory problems like frequent infections and obstructive airway issues
Diagnostic & Treatment
Diagnosis Path: Diagnosis typically involves a combination of clinical evaluation, family history assessment, and laboratory testing. Enzyme activity tests measure the levels of specific enzymes involved in sugar metabolism. Genetic testing can identify mutations in the relevant genes. Radiographic imaging may reveal characteristic skeletal abnormalities associated with the disorder.
Treatment Protocols: While there is no cure for Hurler-Scheie syndrome, treatment options aim to manage symptoms and improve quality of life. These may include enzyme replacement therapy to partially restore enzyme activity, surgical interventions for skeletal deformities and cardiac issues, physical therapy to enhance joint mobility, and supportive care such as hearing aids or vision correction. Early diagnosis and comprehensive care are crucial for optimizing outcomes.
Clinical Advice & FAQs
Billing Guidance
Is E76.02 a billable ICD-10 code?
Yes, E76.02 is a specific, billable code that can be used to indicate a diagnosis for reimbursement purposes.
Documentation
How do I report E76.02?
Clinical documentation must specify the nature of Hurler-Scheie syndrome and any associated comorbidities for accurate reporting.
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