Skip navigation

Skeletal limb abnormalities

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

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 if you have 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 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?

Other tests such as chromosome studies, enzyme assays, x-rays, and metabolic studies may be done.

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. 11th ed. St. Louis, Mo: Mosby; 2007.

Update Date: 11/12/2012

Updated by: Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by A.D.A.M. Health Solutions, Ebix, Inc., Editorial Team: David Zieve, MD, MHA, David R. Eltz, Stephanie Slon, and Nissi Wang.

A.D.A.M Quality Logo

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). URAC's accreditation program is an independent audit to verify that A.D.A.M. follows rigorous standards of quality and accountability. A.D.A.M. is among the first to achieve this important distinction for online health information and services. Learn more about A.D.A.M.'s editorial policy, editorial process and privacy policy. A.D.A.M. is also a founding member of Hi-Ethics and subscribes to the principles of the Health on the Net Foundation (www.hon.ch).

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 1997-2014, A.D.A.M., Inc. Duplication for commercial use must be authorized in writing by ADAM Health Solutions.

A.D.A.M Logo