Marfan Syndrome

An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE; AORTIC ANEURYSM; and AORTIC DISSECTION. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome (type 1) is associated with mutations in the gene encoding FIBRILLIN-1 (FBN1), a major element of extracellular microfibrils of connective tissue. Mutations in the gene encoding TYPE II TGF-BETA RECEPTOR (TGFBR2) are associated with Marfan syndrome type 2.

Also Known As:

Marfan's Syndrome; Marfans Syndrome; Marfan Syndrome, Type I; Marfan Like Connective Tissue Disorder; Marfan Syndrome Type 1; Marfan Syndrome Type 2; Marfan Syndrome, Type II

Musculoskeletal Diseases: 751
- Bone Diseases: 5970
  - Developmental Bone Diseases: 156
    - Marfan Syndrome: 1807
Cardiovascular Diseases: 94258
- Heart Diseases: 26486
  - Congenital Heart Defects: 9139
    - Marfan Syndrome: 1807
- Cardiovascular Abnormalities: 457
  - Congenital Heart Defects: 9139
    - Marfan Syndrome: 1807
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Congenital Abnormalities: 26404
  - Cardiovascular Abnormalities: 457
    - Congenital Heart Defects: 9139
      - Marfan Syndrome: 1807
  - Multiple Abnormalities: 213
    - Marfan Syndrome: 1807
- Inborn Genetic Diseases: 12342
  - Marfan Syndrome: 1807
Skin and Connective Tissue Diseases
- Connective Tissue Diseases: 3325
  - Marfan Syndrome: 1807

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