Skeletal limb abnormalities

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.


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

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

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       o Have any family members had similar skeletal abnormalities?       o Is there any family history of a disorder associated with skeletal limb abnormality (see common causes in this document).  
  • History of the pregnancy       o Were there any troubles with the pregnancy?       o What drugs or medications were taken during the pregnancy?  
  • Other       o 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.

Johns Hopkins patient information

Last revised: December 3, 2012
by Levon Ter-Markosyan, D.M.D.

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All ArmMed Media material is provided for information only and is neither advice nor a substitute for proper medical care. Consult a qualified healthcare professional who understands your particular history for individual concerns.