Marfan syndrome


Mar·fan syndrome

noun \ˈmär-ˌfan-\

Definition of MARFAN SYNDROME

:  a disorder of connective tissue that is inherited as a dominant trait and is characterized by abnormal elongation of the long bones and often by ocular and circulatory defects —called also Mar*fan's syndrome, \ˈmär-ˌfanz-\

Origin of MARFAN SYNDROME

Antonin Bernard Jean Marfan †1942 French pediatrician
First Known Use: circa 1923

Mar·fan syndrome

noun \ˈmär-ˌfan-\   (Medical Dictionary)

Medical Definition of MARFAN SYNDROME

: a disorder of connective tissue that is inherited as a simple dominant trait, is caused by a defect in the gene controlling the production of fibrillin, and is characterized by abnormal elongation of the long bones and often by ocular and circulatory defects

Biographical Note for MARFAN SYNDROME

Mar·fan \mȧr-fäⁿ\ , Antonin Bernard Jean (1858–1942), French pediatrician. Marfan concerned himself with the prevention, diagnosis, and treatment of children's diseases. In 1892 he described spastic paralysis in children with hereditary syphilis. In 1896 he described a syndrome marked by arachnodactyly, ectopia of the crystalline lens, and abnormal flexibility of the joints. The syndrome now bears his name.

Variants of MARFAN SYNDROME

Mar·fan syndrome or Mar·fan's syndrome \-ˌfanz-\

Marfan syndrome

noun    (Concise Encyclopedia)

Rare hereditary disorder of connective tissue. Affected persons are tall, with long, thin limbs and spiderlike fingers (arachnodactyly). The lens of the eye is dislocated, and many have glaucoma or detached retina. Heart muscle abnormalities and various malfunctions and malformations occur; rupture of the aorta is the most common cause of death. Severity varies; affected individuals may die young or live essentially normal lives. The underlying abnormality cannot be cured, but some of the defects can be surgically corrected.

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