Skeletal limb abnormalities
Skeletal limb abnormalities refers to a variety of bone structure problems in the arms or legs (limbs).
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Considerations
The term skeletal limb abnormalities is most often used to describe defects in the legs or arms that are due to a problem with genes or chromosomes, or that occur due to an event that happens during pregnancy.
The abnormalities are often present at birth.
Limb abnormalities can develop after birth if a person has rickets or other diseases that affect bone structure.
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Causes
Skeletal limb abnormalities may be due to any of the following:
- Cancer
- Genetic diseases and chromosomal abnormalities, including Marfan syndrome, Down syndrome, Apert syndrome, and Basal cell nevus syndrome
- Improper position in the womb
- Infections during pregnancy
- Injury during birth
- Malnutrition
- Metabolism problems
- Pregnancy problems, including limb amputation from amniotic band disruption sequence
- Use of certain medicines during pregnancy including thalidomide, which causes the upper part of the arms or legs to be missing, and aminopterin, which leads to shortness of the forearm
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When to Contact a Medical Professional
Contact your health care provider if you have any concerns about limb length or appearance.
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What to Expect at Your Office Visit
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 is based on a family history, medical history, and thorough physical evaluation.
Medical history questions may include:
- Does anyone in your family have skeletal abnormalities?
- Were there any problems during pregnancy?
- What drugs or medicines were taken during the pregnancy?
- What other symptoms or abnormalities are present?
Other tests such as chromosome studies, enzyme assays, x-rays, and metabolic studies may be done.
References
Herring JA. Skeletal dysplasias. In: Herring JA, ed. Tachdjian's Pediatric Orthopaedics. 6th ed. Philadelphia, PA: Elsevier; 2022:chap 36.
McClincy MP, Olgun ZD, Dede O. Orthopedics. In: Zitelli BJ, McIntire SC, Nowalk AJ, Garrison J, eds. Zitelli and Davis' Atlas of Pediatric Physical Diagnosis. 8th ed. Philadelphia, PA: Elsevier; 2023:chap 22.
McCandless SE, Kripps KA. Genetics, inborn errors of metabolism, and newborn screening. In: Fanaroff AA, Fanaroff JM, eds. Klaus and Fanaroff's Care of the High Risk Neonate. 7th ed. Philadelphia, PA: Elsevier; 2020:chap 6.