Skeletal limb abnormalities

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.

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

Contact your health care provider if you have any concerns 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 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.

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.

Updated by: Charles I. Schwartz MD, FAAP, Clinical Assistant Professor of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, General Pediatrician at PennCare for Kids, Phoenixville, PA. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.