Marfan syndrome with skeletal manifestation

This code identifies Marfan syndrome, a genetic disorder affecting connective tissue, specifically when skeletal abnormalities are present. These manifestations often include disproportionately long limbs and digits (arachnodactyly), scoliosis, pectus excavatum or carinatum, and joint hypermobility.

Assign this code when documentation explicitly states a diagnosis of Marfan syndrome and details skeletal involvement. This is appropriate for patients presenting with or being evaluated for characteristic bone and joint abnormalities linked to their Marfan diagnosis. Supporting documentation includes genetic testing results, orthopedic evaluations, and physical examination findings.

• Always ensure the physician's documentation clearly links the skeletal findings to Marfan syndrome.
• Do not use this code if Marfan syndrome is present but skeletal manifestations are not documented or are explicitly absent.
• Consider additional codes for specific skeletal deformities (e.g., M41.- for scoliosis) if they are significant and require separate reporting.