Condition: Acromesomelic Dysplasia

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About Acromesomelic Dysplasia

Acromesomelic dysplasia is an extremely rare, inherited, progressive skeletal disorder that results in a particular form of short stature (short-limb dwarfism). The disorder is characterized by acromelia and mesomelia. Mesomelia describes the shortening of the bones of the forearms and forelegs relative to the upper parts of those limbs. Acromelia is the shortening of the bones of the hands and feet relative to the upper and middle limb segments. Thus, the short stature of affected individuals is the result of unusually short forearms and abnormal shortening of bones of the lower (distal) legs. These findings are apparent during the first years of life. Abnormal cartilage and bone development may also affect other bones of the body, particularly those of the hands and feet (i.e., metacarpals, phalanges, metatarsals). 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. The fingernails and toenails may also appear unusually short and wide.

Affected individuals may have additional abnormalities resulting from abnormal cartilage and bone development, including limited extension of the elbows and arms and/or progressive abnormal curvature of the spine. Other characteristic abnormalities include a relatively enlarged head (macrocephaly), slightly flattened midface, and/or small, pug nose. AMD is inherited as an autosomal recessive genetic trait.

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Last updated on Jun 15 2018 at 14:51
Disclaimer: The list and ratings above are for informational purposes only, and is intended to supplement, not substitute for, the expertise and judgment of your physician, pharmacist or other healthcare professional. The goal of the information is to provide you with a comprehensive view of all available treatments, but should not be construed to indicate that use of any one treatment is safe, appropriate, or effective for you. Decisions about use of a new treatment, or about a change in your current treatment plan, should be in consultation with your doctor or other healthcare professional.