Skip to Main Content




  • Marfan’s syndrome




  • 759.82 Marfan syndrome




  • Q87.4 Marfan syndrome

  • Q87.40 Marfan syndrome, unspecified

  • Q87.41 Marfan syndrome with cardiovascular manifestations

  • Q87.410 Marfan syndrome with aortic dilation

  • Q87.418 Marfan syndrome with other cardiovascular manifestations

  • Q87.42 Marfan syndrome with ocular manifestations

  • Q87.43 Marfan syndrome with skeletal manifestation




  • 4D: Impaired Joint Mobility, Motor Function, Muscle Performance, and Range of motion Associated With Connective-Tissue Dysfunction1



A 38-year-old woman presents with increasing complaints of fatigue, nearsightedness, and increasing joint pain, especially in the morning. She has an ectomorphic body type, with long and thin extremities and fingers. Her joints are generally hypermobile, and she has a moderate kyphosis of the thoracic spine. She complains of foot pain due to low arches, which is relieved by foot orthoses. She was previously diagnosed with mitral valve prolapse (MVP). Patient states she is having difficulty with when she is carrying her groceries from the car.




  • 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

    • MVP

    • Aortic dissection and disruption, which may cause sudden death


Marfan syndrome. Familial expression of upward dislocation of the lens (A, B) and arachnodactyly (C). (From Riordan-Eva P, Cunningham Jr ET. Vaughan & Asbury’s General Ophthalmology, 18th ed. Copyright © The McGraw-Hill Companies, Inc. All rights reserved.)

Graphic Jump Location

  • Inherited as an autosomal trait

  • Rare cases of spontaneous gene defect

  • Incidence: 1 in 5000 people2

  • Men and women equally affected





  • Vision changes with possible retinal dysfunction

    • Detached retina

    • Cataracts

    • Subluxation of the lens

  • 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

    • Dilatation of the ascending aorta

    • 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 ...

Want remote access to your institution's subscription?

Sign in to your MyAccess profile while you are actively authenticated on this site via your institution (you will be able to verify this by looking at the top right corner of the screen - if you see your institution's name, you are authenticated). Once logged in to your MyAccess profile, you will be able to access your institution's subscription for 90 days from any location. You must be logged in while authenticated at least once every 90 days to maintain this remote access.


About MyAccess

If your institution subscribes to this resource, and you don't have a MyAccess profile, please contact your library's reference desk for information on how to gain access to this resource from off-campus.

Subscription Options

AccessPhysiotherapy Full Site: One-Year Subscription

Connect to the full suite of AccessPhysiotherapy content and resources including interactive NPTE review, more than 500 videos, Anatomy & Physiology Revealed, 20+ leading textbooks, and more.

$595 USD
Buy Now

Pay Per View: Timed Access to all of AccessPhysiotherapy

24 Hour Subscription $34.95

Buy Now

48 Hour Subscription $54.95

Buy Now

Pop-up div Successfully Displayed

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