Marfan syndrome
ICD-10 Q87.4 is a billable code used to indicate a diagnosis of marfan syndrome.
Marfan syndrome is a genetic disorder that affects the body's connective tissue, leading to a range of symptoms and complications. It is characterized by tall stature, long limbs, and a variety of cardiovascular, ocular, and skeletal abnormalities. Patients may present with aortic dilation or dissection, lens dislocation, and scoliosis. Congenital malformations associated with Marfan syndrome can include skin abnormalities such as striae, breast deformities, and splenic anomalies. The condition is caused by mutations in the FBN1 gene, which encodes the connective protein fibrillin-1. Diagnosis is typically based on clinical criteria, including the presence of characteristic features and family history. Genetic testing can confirm the diagnosis and is essential for family planning and management. Due to its systemic nature, Marfan syndrome requires a multidisciplinary approach for management, including regular monitoring of cardiovascular health and orthopedic evaluations.
Detailed growth and development assessments, family history, and physical examination findings.
Pediatric patients presenting with tall stature, joint hypermobility, or cardiovascular symptoms.
Ensure accurate documentation of all congenital anomalies and their management.
Genetic test results, family pedigree, and detailed clinical evaluations.
Genetic counseling sessions for families with a history of Marfan syndrome.
Emphasize the importance of genetic testing and implications for family members.
Routine follow-up for Marfan syndrome management.
Document history, examination findings, and management plan.
Pediatricians should focus on growth and development assessments.
Key features include tall stature, long limbs, cardiovascular issues, and ocular abnormalities. Regular monitoring and management are essential.
