Marfan syndrome

external

• Synonyms

  • Marfanism
  • Marfanoid habitus

• Causes

  • Homocystinuria
  • FBN1 gene mutation

• Effects

  • Tall stature
  • Dolichocephaly
  • Myopia
  • Blue sclera
  • Dislocation of lens
  • High arched palate
  • Micrognathia
  • Dolichostenomelia
  • Arachnodactyly
  • Pectus excavatum
  • Pectus carinatum
  • Mitral valve prolapse
  • Aortic regurgitation
  • Aortic aneurysm
  • Aortic dissection
  • Pneumothorax
  • Emphysema
  • Scoliosis
  • Berry aneurysm
  • Inguinal hernia
  • Femoral hernia
  • Myxoid degeneration
  • Chronic glaucoma
  • Joint hypermobility
  • Heterochromia of iris
  • Rhegmatogenous retinal detachment
  • Cystic medial necrosis
  • Posterior scalloping
  • Congenital cataract
  • Large ears
  • Congenital heart disease due to genetic syndromes
  • Familial dilated cardiomyopathy

• Parents

  • Genetic collagen disease
  • Autosomal dominant disorder

• Description

  • "1:15
  • 000 fibrillin mutation Arm span > height 60% lens dislocation"