Skeletal limb abnormalities

Definition

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

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.