Endocrinology Book

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Marfan's Syndrome

Aka: Marfan's Syndrome, Marfan Syndrome, Arachnodactyly
  1. Epidemiology
    1. Autosomal Dominant with variable expression
    2. Sporadic (non-hereditary) account for 15-33% of cases
    3. Prevalence: 1 in 10,000 (in United States)
  2. Etiology
    1. Defect in gene coding for fibrillin structure
    2. Connective tissue defect affecting multiple systems
      1. Musculoskeletal disease
      2. Ocular disease
      3. Cardiac disease
  3. Signs
    1. Body habitus
      1. Tall (Height exceeds 95th percentile for age)
      2. Extremely slender build
    2. Cardiovascular signs and conditions
      1. Mitral Valve Prolapse
      2. Aortic root dilatation
      3. Myocardial Infarction
      4. Aortic Insufficiency
      5. Congestive Heart Failure
      6. Subacute Bacterial Endocarditis
      7. Aortic Dissection
    3. Musculoskeletal signs and conditions
      1. Arachnodactyly (Spider fingers)
      2. Pectus deformity (Pigeon Breast or Funnel Breast)
      3. High narrow Palate
      4. Arm Span exceeds height
      5. Leg length exceeds trunk length
      6. Hyperextensible joints and ligaments
      7. Pes Planus
      8. Hammer toes
      9. Vertebral Column deformities (e.g. Kyphoscoliosis)
      10. Inguinal Hernia
      11. Striae Distensae
    4. Ocular signs and conditions
      1. Upward ectopia lentis
      2. Myopia
      3. Iridodonesis
      4. Glaucoma
      5. Retinal Detachment
  4. Labs
    1. Homocystinuria
  5. Radiology
    1. Echocardiogram
      1. Enlarged aortic root
    2. Chest XRay
      1. Deformed aorta and pulmonary artery

Arachnodactyly (C0003706)

Definition (MSH) An abnormal bone development that is characterized by extra long and slender hands and fingers, such that the clenched thumb extends beyond the ulnar side of the hand. Arachnodactyly can include feet and toes. Arachnodactyly has been associated with several gene mutations and syndromes.
Concepts Congenital Abnormality (T019) , Disease or Syndrome (T047)
MSH D054119, D008382
SnomedCT 271434006, 205816001, 62250003
Dutch arachnodactylie, fingers; spider, spider; fingers, Arachnodactylie
Japanese くも指症, クモユビショウ, クモシショウ
English Arachnodactylies, Arachnodactyly, Arachnodactyly [Disease/Finding], fingers spider, arachnodactyly, Congenital arachnodactyly (disorder), Arachnodactyly (& [congenital]) (disorder), Arachnodactyly (& [congenital]), Dolichostenomelia, Spider finger, Congenital arachnodactyly, Arachnodactyly (disorder), dolichostenomelia, fingers; spider, spider; fingers
Portuguese Aracnodactilia
Spanish Aracnodactilia, aracnodactilia (trastorno), aracnodactilia, dedos de araña, dolicoestenomelia
Finnish Araknodaktylia
French Arachnodactylie
German Arachnodaktylie
Italian Aracnodattilia
Russian АРАХНОДАКТИЛИЯ, ARAKHNODAKTILIIA
Czech Arachnodaktylie, arachnodaktýlie
Swedish Araknodaktyli
Polish Arachnodaktylia, Długopalczastość, Palce pajęcze, Pająkowatość palców
Hungarian Arachnodactylia
Norwegian Araknodaktyli
Sources
Derived from the NIH UMLS (Unified Medical Language System)


Marfan Syndrome (C0024796)

Definition (MSH) An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE, dilation of the AORTA, and aortic dissection. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome is associated with mutations in the gene encoding fibrillin, a major element of extracellular microfibrils of connective tissue.
Definition (CHV) A hereditary disorder of connective tissue characterized by tall stature, elongated extremities, dilatation of the ascending aorta, and pigeon breast.
Definition (CHV) A hereditary disorder of connective tissue characterized by tall stature, elongated extremities, dilatation of the ascending aorta, and pigeon breast.
Definition (CHV) A hereditary disorder of connective tissue characterized by tall stature, elongated extremities, dilatation of the ascending aorta, and pigeon breast.
Definition (CHV) A hereditary disorder of connective tissue characterized by tall stature, elongated extremities, dilatation of the ascending aorta, and pigeon breast.
Definition (MEDLINEPLUS)

Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood vessels, and other organs. One of these proteins is fibrillin. A problem with the fibrillin gene causes Marfan syndrome.

Marfan syndrome can be mild to severe, and the symptoms can vary. People with Marfan syndrome are often very tall, thin, and loose jointed. Most people with Marfan syndrome have heart and blood vessel problems, such as a weakness in the aorta or heart valves that leak. They may also have problems with their bones, eyes, skin, nervous system, and lungs.

There is no single test to diagnose Marfan syndrome. Your doctor may use your medical history, family history, and a physical exam to diagnose it. Marfan syndrome has no cure, but treatments can help delay or prevent complications. Treatments include medicines, surgery, and other therapies.

NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases

Definition (MSHCZE) Autozomálně-dominantně dědičné onemocnění (lokalizace genového defektu na chromozomu 15) postihující pojivovou tkáň kostry, oka (poruchy čočky, její subluxace), a kardiovaskulárního systému (postižení mitrální chlopně a aorty s možným vznikem jejího aneurysmatu). Postižení mají typický habitus – vysokou postavu, dlouhé tenké končetiny i prsty (arachnodaktylie) a trychtýřovitý hrudník. (cit. Velký lékařský slovník online, 2013 http://lekarske.slovniky.cz/ )
Definition (NCI) A genetic syndrome inherited as an autosomal dominant trait. It is caused by mutations in the FBN1 gene. It is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens.
Definition (CSP) disorder of connective tissue characterized by tall stature, elongated extremities, subluxation of the lens, dilatation of the ascending aorta, and "pigeon breast"; inherited as an autosomal dominant trait.
Concepts Disease or Syndrome (T047)
MSH D008382
ICD9 759.82
ICD10 Q87.4, Q87.40
SnomedCT 19346006, 157033002, 268359006, 157024004
English Marfan's Syndrome, Marfans Syndrome, Syndrome, Marfan, Syndrome, Marfan's, MARFAN SYNDROME, MFS, MFS1, MARFAN SYNDROME, TYPE I, Marfan's syndrome (diagnosis), Marfan Syndrome, Marfan syndrome, Marfan's syndrome, unspecified, Marfan Syndrome [Disease/Finding], marfan syndrome, marfan's syndrome, marfan's disease, Marfans syndrome, Marfan Syndrome, Type I, Marfan's syndrome, Marfan's disease, Marfan's syndrome (disorder), Marfan, marfans syndrome
Swedish Marfans syndrom
Japanese マルファンショウコウグン, マルファン症候群, Marfan症候群
Czech Marfanův syndrom
Finnish Marfanin oireyhtymä
Russian MARFANA SINDROM, МАРФАНА СИНДРОМ
Korean 마르팡 증후군
Polish Zespół Marfana
Hungarian Marfan-syndroma
Norwegian Marfan-syndrom, Marfans syndrom
Spanish enfermedad de Marfan, síndrome de Marfan (trastorno), síndrome de Marfan, Síndrome de Marfan
Dutch syndroom van Marfan, Marfan-syndroom, Syndroom van Marfan, Syndroom, Marfan-
German Marfan Syndrom, Marfan-Syndrom
French Syndrome de Marfan, Maladie de Marfan
Italian Sindrome di Marfan
Portuguese Síndrome de Marfan
Sources
Derived from the NIH UMLS (Unified Medical Language System)


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