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 if you have have rickets and other diseases that affect bone structure.
Skeletal limb abnormalities may be due to:
Call your health care provider if you have any concerns about limb length or appearance.
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:
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.
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.
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