Marfan syndrome, unspecified
ICD-10 Q87.40 is a billable code used to indicate a diagnosis of marfan syndrome, unspecified.
Marfan syndrome is a genetic disorder that affects the connective tissue in the body, leading to a variety of complications, particularly in the cardiovascular, skeletal, and ocular systems. It is characterized by features such as tall stature, long limbs, and fingers, as well as cardiovascular abnormalities like aortic dilation or dissection. Patients may also exhibit scoliosis, pectus excavatum, and lens dislocation. The condition is caused by mutations in the FBN1 gene, which encodes the connective protein fibrillin-1. Diagnosis is often based on clinical criteria, including family history and the presence of specific physical features. While Marfan syndrome is primarily inherited in an autosomal dominant pattern, de novo mutations can also occur. The management of Marfan syndrome typically involves regular monitoring and may include surgical interventions for cardiovascular complications. Given its systemic nature, Marfan syndrome can be associated with other congenital malformations, including those affecting the skin, breast, spleen, and adrenal glands, necessitating a comprehensive approach to care.
Pediatric documentation should include growth parameters, developmental milestones, and specific physical findings related to Marfan syndrome.
Common scenarios include routine check-ups for growth monitoring, referrals for orthopedic evaluations, and cardiovascular assessments.
Pediatric coders must be aware of the age-specific manifestations of Marfan syndrome and the importance of early detection.
Genetic documentation should include results from genetic testing, family pedigree, and any genetic counseling provided.
Scenarios may involve genetic counseling for families with a history of Marfan syndrome and discussions about reproductive options.
Genetic coders must ensure accurate coding of genetic tests and their implications for family members.
Used for routine follow-up visits for patients with Marfan syndrome.
Documentation must include history, examination findings, and management plan.
Pediatricians should focus on growth and developmental assessments.
Key features include tall stature, long limbs, cardiovascular abnormalities, and skeletal deformities. Regular monitoring is essential for managing potential complications.
