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GTR Home > Tests > Marfan syndrome

Indication

This is a clinical test intended for Help: Diagnosis, Mutation Confirmation

Clinical summary

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Imported from GeneReviews

FBN1-related Marfan syndrome (Marfan syndrome), a systemic disorder of connective tissue with a high degree of clinical variability, comprises a broad phenotypic continuum ranging from mild (features of Marfan syndrome in one or a few systems) to severe and rapidly progressive neonatal multiorgan disease. Cardinal manifestations involve the ocular, skeletal, and cardiovascular systems. Ocular findings include myopia (>50% of affected individuals); ectopia lentis (seen in approximately 60% of affected individuals); and an increased risk for retinal detachment, glaucoma, and early cataracts. Skeletal system manifestations include bone overgrowth and joint laxity; disproportionately long extremities for the size of the trunk (dolichostenomelia); overgrowth of the ribs that can push the sternum in (pectus excavatum) or out (pectus carinatum); and scoliosis that ranges from mild to severe and progressive. The major morbidity and early mortality in Marfan syndrome relate to the cardiovascular system and include dilatation of the aorta at the level of the sinuses of Valsalva (predisposing to aortic tear and rupture), mitral valve prolapse with or without regurgitation, tricuspid valve prolapse, and enlargement of the proximal pulmonary artery. Severe and prolonged regurgitation of the mitral and/or aortic valve can predispose to left ventricular dysfunction and occasionally heart failure. With proper management, the life expectancy of someone with Marfan syndrome approximates that of the general population.

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Aortic regurgitation
  • Arachnodactyly
  • Astigmatism
  • Ectopia lentis
  • Esotropia
  • Exotropia
  • Pes planus
  • Glaucoma
  • Congestive heart failure
  • Hypertropia
  • Micrognathia
  • Mitral regurgitation
  • Mitral valve prolapse
  • Myopia
  • Pneumothorax
  • Emphysema
  • Retinal detachment
  • Retrognathia
  • Scoliosis
  • Spondylolisthesis
  • Strabismus
  • Dental crowding
  • Tricuspid regurgitation
  • Tricuspid valve prolapse
  • Cataract
  • Bicuspid aortic valve
  • Striae distensae
  • Pectus carinatum
  • Dolichocephaly
  • High palate
  • Tall stature
  • Incisional hernia
  • Flexion contracture
  • Aortic dissection
  • Hypoplasia of the iris
  • Protrusio acetabuli
  • Downslanted palpebral fissures
  • Deeply set eye
  • Pulmonary artery dilatation
  • Genu recurvatum
  • Kyphoscoliosis
  • Narrow foot
  • Camptodactyly
  • Pes cavus
  • Ascending tubular aorta aneurysm
  • Hammertoe
  • Inferior oblique muscle overaction
  • Aortic root aneurysm
  • Talipes
  • Narrow palate
  • Microspherophakia
  • Increased axial length of the globe
  • Premature osteoarthritis
  • Mitral annular calcification
  • Long face
  • Disproportionate tall stature
  • Decreased muscle mass
  • Narrow face
  • Joint hypermobility
  • Dural ectasia
  • Reduced subcutaneous adipose tissue
  • Malar flattening
  • Equinus calcaneus
  • Limited elbow extension
  • Pectus excavatum
  • Medial rotation of the medial malleolus
  • Spontaneous cerebrospinal fluid leak
  • Metatarsus adductus
  • Reduced upper to lower segment ratio
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Inheritance pattern

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Autosomal dominant inheritance

Conditions tested

Target population

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Not provided

Clinical validity

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Not provided

Clinical utility

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Not provided

Suggested reading

Practice guidelines

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