Skeletal limb abnormalities is a very broad descriptive term. There are a variety of possible abnormalities of the arms or legs (limbs) 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 injury
• 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.

• 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

Consult your health care provider.

• there is any concern 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 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?