Skeletal (limb) abnormalities

Home care:

Consult your health care provider.

Call your health care provider if:

• there is any concern about limb length or appearance.

What to expect at your health care provider's office:

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 documenting skeletal (limb) abnormality in detail may include:

• family history
  • Have any family members had similar skeletal abnormalities?
  • Is there any family history of a disorder associated with skeletal limb abnormality (see common causes in this document).

• history of the pregnancy
  • Were there any troubles with the pregnancy?
  • What drugs or medications were taken during the pregnancy?

• other
  • What other symptoms or abnormalities are also present?

Laboratory studies such as chromosome studies, enzyme assays, X-rays, and metabolic studies may be ordered to confirm the presence of a suspected disorder.

After seeing your health care provider:
If a diagnosis was made by your health care provider as the cause of a limb abnormality, you may want to note that diagnosis in your personal medical record.