Considerations

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.

Causes

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

When to Contact a Medical Professional

Call your health care provider if you have any concerns about limb length or appearance.

What to Expect at Your Office Visit

An infant with limb abnormalities generally has other symptoms and signs that, when taken together, define a specific syndrome or condition or give a clue as to the cause of the abnormality. Diagnosis of that condition is based on a family history, medical history, and thorough physical evaluation.

Medical history questions may include:

• Does anyone in your family have skeletal abnormalities?
• Were there any problems during pregnancy?
• What drugs or medications were taken during the pregnancy?
• What other symptoms or abnormalities are present?

Laboratory studies such as chromosome studies, enzyme assays, x-rays, and metabolic studies may be done to confirm a suspected disorder.

References

Knobloch J, Shaughnessy Jr JD, Ruther U. Thalidomide induces limb deformities by perturbing the Bmp/Dkk1/Wnt signaling pathway. FASEB J. 2007 Feb 5; [Epub ahead of print].

Canale ST. Campbell's Operative Orthopaedics. 10th ed. St. Louis, Mo: Mosby; 2003:1043.

Updated: 4/12/2012

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.