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Genetic and Rare Diseases Information Center (GARD)

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Acromesomelic dysplasia


Other Names for this Disease

  • Acromesomelic dwarfism
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Overview

What is acromesomelic dysplasia?

What are the signs and symptoms of acromesomelic dysplasia?

What is acromesomelic dysplasia?

Acromesomelic dysplasia describes a group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait.[1]

There are different types of acromesomelic dysplasia, which are distinguished by their genetic cause. To read more about the different types, click on the links below.[1]
Acromesomelic dysplasia, Maroteaux type
Acromesomelic dysplasia, Hunter-Thompson type
Acromesomelic dysplasia, Grebe type
Last updated: 6/28/2011

What are the signs and symptoms of acromesomelic dysplasia?

Affected infants often have a normal birth weight. In most cases, in addition to having unusually short, broad hands and feet, affected infants often have characteristic facial abnormalities that are apparent at birth. Such features may include a relatively enlarged head, unusually prominent forehead, pronounced back portion of the head (occipital prominence), a slightly flattened midface, and/or an abnormally small, pug nose.[1]

During the first years of life, as the forearms, lower legs, hands, and feet do not grow proportionally with the rest of the body, short stature (short-limb dwarfism) begins to become apparent. Over time, affected individuals may be unable to fully extend the arms, rotate the arms inward toward the body with the palms facing down, or rotate the arms outward with the palms facing upward. In some cases, affected individuals may also experience progressive degeneration, stiffness, tenderness, and pain of the elbows (osteoarthritis).[1] 

Abnormalities of cartilage and bone development may also cause the bones within the fingers, toes, hands, and feet to become increasingly shorter and broader during the first years of life. During the second year of life, the growing ends of these bones may begin to appear abnormally shaped like a cone or a square and may fuse prematurely. This causes the fingers and toes to appear short and stubby. The hands and feet may seem unusually short, broad, and square; and the feet may appear abnormally flat. In early childhood, extra, loose skin may also develop over the fingers.[1]

During early childhood, affected individuals may also begin to experience progressive, abnormal curvature of the spine. In rare cases, affected individuals can experience delayed puberty and corneal clouding.[1]
Last updated: 6/28/2011

References
  1. Acromesomelic dysplasia. National Organization for Rare Disorders (NORD). 2009; http://rarediseases.org/rare-disease-information/rare-diseases/byID/1087/viewAbstract. Accessed 6/28/2011.


Other Names for this Disease
  • Acromesomelic dwarfism
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.