Skip to Main Content

ICD-9-CM Code

  • 759.82 Marfan syndrome

ICD-10-CM Codes

  • Q87.4 Marfan's syndrome

  • Q87.40 Marfan's syndrome, unspecified

  • Q87.41 Marfan's syndrome with cardiovascular manifestations

  • Q87.410 Marfan's syndrome with aortic dilation

  • Q87.418 Marfan's syndrome with other cardiovascular manifestations

  • Q87.42 Marfan's syndrome with ocular manifestations

  • Q87.43 Marfan's syndrome with skeletal manifestation

Preferred Practice Pattern

Key Features


  • Connective-tissue disorder characterized by long fingers and toes (arachnodactyly)2,3

  • Dominant inherited trait

  • Defect in fibrillin-1 gene

  • Excessive growth of long bones

  • Individuals are tall with elongated extremities

  • Elongated face

  • Pectus Carinatum (pigeon chest)

Essentials of Diagnosis

  • Diagnostic criteria defined in the Ghent nosology

General Considerations

  • Associated cardiac disorders

    • Heart failure

    • Mitral valve prolapse

    • Aortic dissection and disruption, which may cause sudden death


  • Inherited as an autosomal trait

  • Rare cases of spontaneous gene defect

  • Incidence: 1 in 5,000 people2

  • Men and women equally affected

Clinical Findings

Signs and Symptoms

  • Vision changes with possible retinal dysfunction

    • Detached retina

    • Cataracts

  • Joint hypermobility

  • Spiderlike fingers (arachnodactyly)3

  • Wing span exceeds body height

  • Morning stiffness

  • Joint instability

  • Joint deformity

  • Pes planus (Flat feet)

  • Pectus excavatum

  • Scoliosis

  • Learning disability

  • Connective-tissue disorder

  • High arch palate

  • Collapsed lung

  • Arrhythmia

  • Sleep apnea

  • Secondary problems

    • Aneurysm

    • Scoliosis

Functional Implications

  • Limited mobility

  • Aerobic endurance limitation

  • Visual deficiency

  • Decreased activity participation

Possible Contributing Causes

  • Gene mutation

Differential Diagnosis

  • Osteoarthritis

  • Rheumatoid arthritis

  • Ehlers-Danlos syndrome

  • Stickler syndrome

  • Loeys-Dietz syndrome

    • Mutation in the transforming growth factor B-receptor

  • Aortic aneurysm

  • Marfanoid habitus

  • Systemic lupus erythematosus

  • Fibromyalgia syndrome

  • Scleroderma

  • Homocystinuria

  • Lujan syndrome

  • Spondyloarthropathy

  • Ankylosing spondylitis

  • Reiter's syndrome

  • Psoriatic arthritis

  • Lyme disease

Means of Confirmation or Diagnosis


  • Conventional radiograph of the joints and long bones

  • Diagnostic ultrasound of the aorta for possible aneurysm

  • Echocardiogram

  • EKG

Diagnostic Procedures

  • Genetic testing for Febrillin-1

  • Vision, annual eye exam

  • Pulmonary function test

Findings and Interpretation

  • Joint deformities, subluxations, dislocations on plain radiograph

  • Aortic dilation or aneurysm on echocardiogram

  • Heart-valve dysfunction on echocardiogram



  • NSAIDs

  • Cortisone injection

  • Glucocorticoids or corticosteroids

  • Antibiotics

Medical Procedures

  • Surgery for aortic aneurysm, heart valve, detached retina


  • To rheumatologist for assessment of underlying complications

  • To internal medicine specialist

  • To optometrist, for an annual eye exam

  • To cardiologist


Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.