Marfan syndrome

Marfan's syndromeMarfanMarfanoidMarfans SyndromeGhent criteriaMarfan syndrome type IIMarfanoid Habitus
Marfan syndrome (MFS) is a genetic disorder of the connective tissue.wikipedia
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Scoliosis

curvature of the spinethoracoplastyidiopathic scoliosis
They also typically have flexible joints and scoliosis. Besides affecting height and limb proportions, people with Marfan syndrome may have abnormal lateral curvature of the spine (scoliosis), thoracic lordosis, abnormal indentation (pectus excavatum) or protrusion (pectus carinatum) of the sternum, abnormal joint flexibility, a high-arched palate with crowded teeth and an overbite, flat feet, hammer toes, stooped shoulders, and unexplained stretch marks on the skin.
It can also occur due to another condition such as muscles spasms, cerebral palsy, Marfan syndrome, and tumors such as neurofibromatosis.

Genetic disorder

genetic diseasegenetic disordersgenetic diseases
Marfan syndrome (MFS) is a genetic disorder of the connective tissue.
Examples of this type of disorder are Huntington's disease, neurofibromatosis type 1, neurofibromatosis type 2, Marfan syndrome, hereditary nonpolyposis colorectal cancer, hereditary multiple exostoses (a highly penetrant autosomal dominant disorder), Tuberous sclerosis, Von Willebrand disease, and acute intermittent porphyria.

Hypermobility (joints)

hypermobilitydouble jointeddouble-jointed
They also typically have flexible joints and scoliosis. Besides affecting height and limb proportions, people with Marfan syndrome may have abnormal lateral curvature of the spine (scoliosis), thoracic lordosis, abnormal indentation (pectus excavatum) or protrusion (pectus carinatum) of the sternum, abnormal joint flexibility, a high-arched palate with crowded teeth and an overbite, flat feet, hammer toes, stooped shoulders, and unexplained stretch marks on the skin.
Hypermobility may be symptomatic of a serious medical condition, such as Stickler Syndrome, Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, rheumatoid arthritis, osteogenesis imperfecta, lupus, polio, Down syndrome, morquio syndrome, cleidocranial dysostosis or myotonia congenita.

Beta blocker

beta blockersbeta-blockersbeta-blocker
Management often includes the use of beta blockers such as propranolol or atenolol or, if that is not tolerated, calcium channel blockers or ACE inhibitors.

Pectus excavatum

funnel chestchest indentabnormal indentation
Besides affecting height and limb proportions, people with Marfan syndrome may have abnormal lateral curvature of the spine (scoliosis), thoracic lordosis, abnormal indentation (pectus excavatum) or protrusion (pectus carinatum) of the sternum, abnormal joint flexibility, a high-arched palate with crowded teeth and an overbite, flat feet, hammer toes, stooped shoulders, and unexplained stretch marks on the skin.
Pectus excavatum can be present in other conditions too, including Noonan syndrome, Marfan syndrome and Loeys-Dietz syndrome as well as other connective tissue disorders such as Ehlers–Danlos Syndrome.

Fibrillin

FBN2fibrillin-1FBN3
It involves a mutation to the gene that makes fibrillin, which results in abnormal connective tissue.
Marfan syndrome is a genetic disorder of the connective tissue caused by defected FBN1 gene.

Mitral valve prolapse

Barlow's syndromemitral valve prolapse syndromeprolapse
The most serious complications involve the heart and aorta, with an increased risk of mitral valve prolapse and aortic aneurysm. The signs of regurgitation from prolapse of the mitral or aortic valves (which control the flow of blood through the heart) result from cystic medial degeneration of the valves, which is commonly associated with MFS (see mitral valve prolapse, aortic regurgitation).
MVP may occur with greater frequency in individuals with Ehlers-Danlos syndrome, Marfan syndrome or polycystic kidney disease.

Aortic dissection

dissecting aortic aneurysmdissectionthoracic aortic dissection
Sometimes, no heart problems are apparent until the weakening of the connective tissue (cystic medial degeneration) in the ascending aorta causes an aortic aneurysm or aortic dissection, a surgical emergency.
AD is more common in those with a history of high blood pressure, a number of connective tissue diseases that affect blood vessel wall strength including Marfan syndrome and Ehlers Danlos syndrome, a bicuspid aortic valve, and previous heart surgery.

Osteoarthritis

arthrosisdegenerative joint diseaseKnee osteoarthritis
Early osteoarthritis may occur.

Aortic aneurysm

aortic aneurysmsaortic aneurismaneurysm
The most serious complications involve the heart and aorta, with an increased risk of mitral valve prolapse and aortic aneurysm.
The diameter of the aneurysm, its rate of growth, the presence or absence of Marfan syndrome, Ehlers–Danlos syndromes or similar connective tissue disorders, and other co-morbidities are all important factors in the overall treatment.

Antoine Marfan

Antoine Bernard-Jean Marfan
It is named after Antoine Marfan, a French pediatrician who first described the condition in 1896.
In 1896, Marfan described a hereditary disorder of connective tissue that was to become known as Marfan syndrome, the term first being used by Henricus Jacobus Marie Weve (1888–1962) of Utrecht in 1931.

Pectus carinatum

protrudingprotruding sternumprotrusion
Besides affecting height and limb proportions, people with Marfan syndrome may have abnormal lateral curvature of the spine (scoliosis), thoracic lordosis, abnormal indentation (pectus excavatum) or protrusion (pectus carinatum) of the sternum, abnormal joint flexibility, a high-arched palate with crowded teeth and an overbite, flat feet, hammer toes, stooped shoulders, and unexplained stretch marks on the skin.
However, the condition may be present in association with other syndromes: Turner syndrome, Noonan syndrome, Loeys-Dietz syndrome, Marfan syndrome, Ehlers-Danlos syndrome, Morquio syndrome, trisomy 18, trisomy 21, homocystinuria, osteogenesis imperfecta, multiple lentigines syndrome (LEOPARD syndrome), Sly syndrome (mucopolysaccharidosis type VII), and scoliosis.

Dolichostenomelia

disproportionately long, slender limbs
Many individuals with Marfan syndrome grow to above-average height, and some have disproportionately long, slender limbs with thin, weak wrists and long fingers and toes.
It is a common feature of several kinds of hereditary disorders which affect connective tissue, such as Marfan syndrome and homocystinuria.

Arachnodactyly

fingers and toeslong, thin fingersvery long fingers and toes
Many individuals with Marfan syndrome grow to above-average height, and some have disproportionately long, slender limbs with thin, weak wrists and long fingers and toes. People with Marfan tend to be tall and thin, with long arms, legs, fingers and toes.
Examples include Marfan syndrome, Ehlers-Danlos syndrome, Loeys–Dietz syndrome, congenital contractural arachnodactyly, and homocystinuria.

Connective tissue

fibrous tissuefibrous connective tissueconnective
Marfan syndrome (MFS) is a genetic disorder of the connective tissue.

Aortic insufficiency

aortic regurgitationaortic valve insufficiencyAortic valve regurgitation
The signs of regurgitation from prolapse of the mitral or aortic valves (which control the flow of blood through the heart) result from cystic medial degeneration of the valves, which is commonly associated with MFS (see mitral valve prolapse, aortic regurgitation).
Other potential causes that affect the valve directly include Marfan syndrome, Ehlers–Danlos syndrome, ankylosing spondylitis, and systemic lupus erythematosus.

Aorta

aorticaortic archaortic root
The most serious complications involve the heart and aorta, with an increased risk of mitral valve prolapse and aortic aneurysm.

Stretch marks

striaestriastretch mark
Besides affecting height and limb proportions, people with Marfan syndrome may have abnormal lateral curvature of the spine (scoliosis), thoracic lordosis, abnormal indentation (pectus excavatum) or protrusion (pectus carinatum) of the sternum, abnormal joint flexibility, a high-arched palate with crowded teeth and an overbite, flat feet, hammer toes, stooped shoulders, and unexplained stretch marks on the skin.
In the case of medication, the Clinic points to "Corticosteroid creams, lotions and pills and chronic use of oral or systemic steroids" as a common contributing factor; in the case of medical conditions that can contribute to stretch marks, examples given include Ehlers-Danlos syndrome, Cushing's syndrome, Marfan syndrome, and "adrenal gland diseases".

High-arched palate

Besides affecting height and limb proportions, people with Marfan syndrome may have abnormal lateral curvature of the spine (scoliosis), thoracic lordosis, abnormal indentation (pectus excavatum) or protrusion (pectus carinatum) of the sternum, abnormal joint flexibility, a high-arched palate with crowded teeth and an overbite, flat feet, hammer toes, stooped shoulders, and unexplained stretch marks on the skin.

Ectopia lentis

lens luxationlens subluxationlens dislocation
In Marfan syndrome, the health of the eye can be affected in many ways, but the principal change is partial lens dislocation, where the lens is shifted out of its normal position.

Pneumothorax

collapsed lungtension pneumothoraxpunctured lung
Pulmonary symptoms are not a major feature of MFS, but spontaneous pneumothorax is common.
The hereditary conditions – Marfan syndrome, homocystinuria, Ehlers–Danlos syndromes, alpha 1-antitrypsin deficiency (which leads to emphysema), and Birt–Hogg–Dubé syndrome – have all been linked to familial pneumothorax.

Bronchiectasis

bronchectasisbronchiectasiadilated
Pathologic changes in the lungs have been described such as cystic changes, emphysema, pneumonia, bronchiectasis, bullae, apical fibrosis and congenital malformations such as middle lobe hypoplasia.

Dura mater

duraduralcovering of the spinal cord
Other commonly affected areas include the lungs, eyes, bones and the covering of the spinal cord.
Dural ectasia is the enlargement of the dura and is common in connective tissue disorders, such as Marfan syndrome and Ehlers–Danlos syndrome.

Marfanoid–progeroid–lipodystrophy syndrome

Marfan lipodystrophy syndromeMarfan-progeroid-lipodystrophy syndrome
Marfanoid–progeroid–lipodystrophy syndrome (MPL), also referred to as Marfan lipodystrophy syndrome (MFLS), is a variant of MFS in which Marfan symptoms are accompanied by features usually associated with neonatal progeroid syndrome (also referred to as Wiedemann–Rautenstrauch syndrome) in which the levels of white adipose tissue are reduced.
Marfanoid–progeroid–lipodystrophy syndrome (MPL), also known as Marfan lipodystrophy syndrome (MFLS) or progeroid fibrillinopathy, is an extremely rare medical condition which manifests as a variety of symptoms including those usually associated with Marfan syndrome, an appearance resembling that seen in neonatal progeroid syndrome (NPS; also known as Wiedemann–Rautenstrauch syndrome), and severe partial lipodystrophy.

Zonule of Zinn

suspensory ligament of the lenszonular fibersciliary zonule
This occurs because of weakness in the ciliary zonules, the connective tissue strands which suspend the lens within the eye.
Mutations in the fibrillin gene lead to the condition Marfan syndrome, and consequences include an increased risk of lens dislocation.