Skeletal (limb) abnormalities

Definition:

A very broad descriptive term that defines any abnormality of the arms or legs resulting from defects in the skeletal structure of that particular limb.

Considerations:

Skeletal limb abnormalities may result from metabolic diseases, malnutrition (inappropriate amounts of a vitamin, protein, calcium, or other nutrient), genetic diseases, chromosomal abnormalities, intrauterine exposure to drugs and medications, intrauterine infections, intrauterine positioning, intrauterine trauma, birth trauma, and malignancies.

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
  • 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

• intrauterine exposure to drugs or medications
  • thalidomide causes phocomelia (the upper part of one or more of the arms or legs is missing)
  • aminopterin causes mesomelia (shortness of the forelimb)

• intrauterine conditions
  • limb amputation from amniotic band (disruption sequence)
  • club foot (talipes equinovarus)

Note: There may be other causes of limb abnormalities. This list is not all inclusive, and the causes are not presented in order of likelihood. The causes of this symptom can include unlikely diseases and medications. Furthermore, the causes may vary based on age and gender of the affected person, as well as on the specific characteristics of the symptom such as location, quality, and associated complaints. Use the Symptom Analysis option to explore the possible explanations for limb abnormalities, occurring alone or in combination with other problems.