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Marfan's SyndromeAka: Marfan Syndrome, Arachnodactyly

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  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.
ConceptsCongenital Abnormality (T019) , Disease or Syndrome (T047)
MSHD054119
EnglishArachnodactylies, Arachnodactyly, Congenital arachnodactyly, Dolichostenomelia, HAND SPIDERLIKE, Spider finger
Spanisharacnodactilia, dedos de arana, dolicoestenomelia
Parent ConceptsLimb Deformities, Congenital (C0206762), Musculoskeletal Diseases (C0026857), Congenital macrodactylia (C0265552), Congenital anomaly of finger (C0265605), Congenital anomaly of toe (C0265655), Finding of musculoskeletal structure of digit of hand (C0575824), Ambiguous concept (C1274012), Duplicate concept (C1274013)
SourcesCOSTAR, CSP, DXP, MSH, OMIM, QMR, SCTSPA, SNOMEDCT
Derived from the NIH UMLS (Unified Medical Language System)



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