Marfan syndrome with skeletal manifestation
ICD-10 Q87.43 is a billable code used to indicate a diagnosis of marfan syndrome with skeletal manifestation.
Marfan syndrome is a genetic disorder that affects the connective tissue in the body, leading to a variety of skeletal manifestations. Individuals with Marfan syndrome often exhibit tall stature, long limbs, and arachnodactyly (long, slender fingers). Skeletal abnormalities may include scoliosis, pectus excavatum (sunken chest), and joint hypermobility. The condition is caused by mutations in the FBN1 gene, which encodes the protein fibrillin-1, essential for the structural integrity of connective tissue. Patients may also experience cardiovascular complications, such as aortic dilation or dissection, and ocular issues like lens dislocation. Early diagnosis and management are crucial to prevent serious complications. The skeletal manifestations are particularly significant in pediatric patients, as they can impact growth and development. Comprehensive care often involves a multidisciplinary approach, including genetic counseling, orthopedic evaluation, and regular monitoring of cardiovascular health.
Pediatric documentation should include growth measurements, skeletal assessments, and developmental milestones.
Common scenarios include routine check-ups for growth monitoring, referrals for orthopedic evaluation, and assessments for cardiovascular complications.
Special considerations include the need for regular monitoring of skeletal development and cardiovascular health, as well as the psychosocial impact of the condition on the child.
Genetic documentation should include results of genetic testing, family history, and counseling notes.
Genetic counseling sessions for families, diagnosis confirmation through genetic testing, and discussions about inheritance patterns.
Considerations include the interpretation of genetic test results and the implications for family members, as well as the need for ongoing genetic surveillance.
Used for follow-up visits in patients with Marfan syndrome to monitor growth and complications.
Document the patient's history, examination findings, and any management plans.
Pediatricians should focus on growth parameters and developmental milestones.
Common skeletal manifestations include tall stature, long limbs, arachnodactyly, scoliosis, and pectus excavatum. These features can vary significantly among individuals.
