MedlinePlus Medical Encyclopedia: Skeletal limb abnormalities

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Skeletal limb abnormalities

Contents of this page:
Illustrations Definition Considerations Common Causes	Home Care Call your health care provider if What to expect at your health care provider's office

Illustrations

Skeleton

The skeleton (lateral view)

Definition Return to top

Skeletal limb abnormalities is a very broad descriptive term. There are a variety of possible abnormalities of the arms or legs that can be caused by underlying defects in the skeletal structure.

Considerations Return to top

Skeletal limb abnormalities may result from:

Metabolic diseases
Malnutrition (inadequate amounts of a vitamin, protein, calcium, or other nutrients)
Genetic diseases and chromosomal abnormalities
Problems experienced by a fetus before birth -- exposure to drugs and medications, infections, positioning, or trauma
Birth trauma
Cancers

The term is most often used to describe defects associated with genetic, chromosomal, and intrauterine events and is often present at birth. Limb abnormalities can develop after birth as in the case of rickets, renal rickets, and other diseases that can cause profound changes in the skeletal structure after birth.

Common Causes Return to top

Genetic and chromosomal
- Marfan's syndrome
- Achondroplasia
- Ellis-van Creveld syndrome
- Poland sequence
- Down's syndrome
- Prader-Willi syndrome
- Basal cell nevus syndrome
- Trisomy 13
- Rubinstein-Taybi syndrome
- Apert syndrome
Fetal exposure to drugs or medications
- Thalidomide causes the upper part of the arms or legs to be missing
- Aminopterin causes shortness of the forelimb
Intrauterine conditions
- Limb amputation from amniotic band (disruption sequence)
- Club foot

Home Care Return to top

Consult your health care provider.

Call your health care provider if Return to top

there is any concern about limb length or appearance.

What to expect at your health care provider's office Return to top

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.

Update Date: 5/27/2003

Updated by: David M. Scher, M.D., Department of Orthopaedic Surgery, NYU-Hospital for Joint Diseases, New York, NY. Review provided by VeriMed Healthcare Network.

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 2002 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.