- A dictionary of medical eponyms

Marfan's syndrome I

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A disorder of connective tissue affecting primarily the musculoskeletal system, the cardiovascular system and the eye. The patients have an asthenic build, with tall stature, long arms and legs and characteristic changes in the extremities, particularly long and spider-like fingers, an arm span greater than height. There is poorly developed musculature, meager subcutaneous fat, a laxity of the joints and ligaments, and a tendency to double-jointedness. Frequently there is either a pigeon breast or funnel-shaped deformity of the chest, kyphosis, dorsal scoliosis, flat feet, and hammer toes. The face may present an elderly appearance and a melancholy expression. Mentality is usually normal. The lens of the eye is dislocated and there is a high frequency of glaucoma or retinal detachment. There is a variety of heart abnormalities and malfunctions. Rupture of the aorta is the commonest cause of death. The mean age of survival is 43 years for men and 46 for women.

In 75 % of cases inheritance is autosomal dominant with very variable expression, in one quarter it is not inherited but due to a gene mutation. Either sex may be affected. Most cases are obvious at birth.

The Marfan syndrome differs from the Achard syndrome in that the latter lacks eye and heart abnormalities, subnormal subcutaneous fat content, and tall stature.

1896: Dolicostenomely (Marfan).
1902: Arachnodyctyly (Emile Charles Achard).
1912: Salle noted the associated ocular and cardiac anomalies.
1915: Lens luxation (Börger).
1931: Dominant inheritance (Henricus Jacobus Marie Weve)
1943: Aortic aneurysma and-rupture (Baer et al; Etter and Glover).
1962: Delimitation against homocystinuria (Carson and Neill; Gerritsen et al)


  • A. B. Marfan:
    Un cas de déformation congénitale des quatre membres, plus prononcée aux extrémités, caracterisée par l’allongement des os avec un certain degré d’aminicissement.
    Bulletins et memoires de la Société medicale des hôpitaux de Paris, 1896, 13: 220-226. La dolichosténomélie (dolichomélie, arachnodactylie).
    Ann Méd, 1938, 44:5-29.
  • H. J. M. Weve:
    Ueber Arachnodaktylie (Dystrophia mesodermalis congenita, Typus Marfan).
    Archiv für Augenheilkunde, Wiesbaden, 1931, 104: 1-46.

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