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:
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 of that condition is based on a family history, medical history, and thorough physical evaluation.
Medical history questions may include:
Laboratory studies such as chromosome studies, enzyme assays, x-rays, and metabolic studies may be done to confirm a suspected disorder.