Skeletal limb abnormalities

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Skeletal limb abnormalities refer to a variety of bone structure problems in the arms or legs (limbs).

Skeletal limb abnormalities are most often used to describe defects in the legs or arms that are associated with your genes or chromosomes, or that occur due to an event that happens during pregnancy.

The abnormalities are often present at birth.

Limb abnormalities can develop after birth in persons who have rickets and other diseases that affect bone structure.

Skeletal limb abnormalities may be due to:

• Cancer
• Genetic diseases and chromosomal abnormalities, including Marfan syndrome, Down syndrome, Apert syndrome, Basal cell nevus syndrome
• Improper position in the womb
• Infections during pregnancy
• Injury during birth
• Malnutrition
• Metabolic disorders
• Pregnancy problems, including limb amputation from amniotic band disruption sequence
• Use of certain drugs during pregnancy including thalidomide, which causes the upper part of the arms or legs to be missing and aminopterin which leads to shortness of the forearm

Review Date: 11/12/2010
Reviewed By: Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org).

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