BACK TOTOP Browse A-ZSearchBrowse A-ZABCDEFGHIJKLMNOPQRSTUVWXYZ0-9 E-mail FormEmail ResultsName:Email address:Recipients Name:Recipients address:Message: Print-FriendlyBookmarksbookmarks-menuSkeletal limb abnormalitiesSkeletal limb abnormalities refers to a variety of bone structure problems in the arms or legs (limbs). 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.RicketsRickets is a disorder that occurs in children before bone growth is complete. It is caused by a lack of vitamin D, calcium, or phosphate. It leads ...ImageRead Article Now Book Mark Article Causes Skeletal limb abnormalities may be due to any of the following:Cancer CancerCancer is the uncontrolled growth of abnormal cells in the body. Cancerous cells are also called malignant cells.ImageRead Article Now Book Mark Article Genetic diseases and chromosomal abnormalities, including Marfan syndrome, Down syndrome, Apert syndrome, and Basal cell nevus syndrome Marfan syndromeMarfan syndrome is a disorder of connective tissue. This is the tissue that strengthens the body's structures. Disorders of connective tissue affect...ImageRead Article Now Book Mark Article Down syndromeDown syndrome is a genetic condition in which a person has 47 chromosomes instead of the usual 46.Read Article Now Book Mark Article Apert syndromeApert syndrome is a genetic disease in which the seams between the skull bones close earlier than normal. This affects the shape of the head and fac...ImageRead Article Now Book Mark Article Basal cell nevus syndromeNevoid basal cell carcinoma syndrome is a group of conditions passed down through families. The disorder involves the skin, nervous system, eyes, en...ImageRead Article Now Book Mark Article Improper position in the womb Infections during pregnancy Injury during birth Malnutrition MalnutritionMalnutrition is the condition that occurs when your body does not get enough nutrients.ImageRead Article Now Book Mark Article Metabolism problems MetabolismMetabolism refers to all the physical and chemical processes in the body that convert or use energy, such as:BreathingCirculating bloodControlling bo...ImageRead Article Now Book Mark Article 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 When to Contact a Medical Professional Contact your health care provider if you have any concerns about limb length or appearance. 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. The diagnosis is based on a family history, your medical history, and a thorough physical evaluation.Medical history questions may include:Does anyone in your family have skeletal abnormalities? Were there any problems during pregnancy? What illicit 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.Chromosome studiesKaryotyping is a test to examine chromosomes in a sample of cells. This test can help identify genetic problems as the cause of a disorder or diseas...ImageRead Article Now Book Mark Article EnzymeEnzymes are complex proteins that cause a specific chemical change. For example, they can help break down the foods we eat so the body can use them....Read Article Now Book Mark Article Open ReferencesReferencesHerring 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.AllVideoImagesTogMarfan syndrome - illustration Marfan syndrome is a disorder of connective tissue which causes skeletal defects typically recognized in a tall, lanky person. A person with Marfan syndrome may exhibit long limbs and spider-like fingers, chest abnormalities, curvature of the spine and a particular set of facial features including a highly arched palate, and crowded teeth. The most significant of the defects in the syndrome are cardiovascular abnormalities, which may include enlargement (dilatation) of the base of the aorta. Since Marfan syndrome is usually an inherited disorder, prospective parents with a family history of Marfan syndrome should get genetic counseling.Marfan syndromeillustrationMarfan syndrome - illustration Marfan syndrome is a disorder of connective tissue which causes skeletal defects typically recognized in a tall, lanky person. A person with Marfan syndrome may exhibit long limbs and spider-like fingers, chest abnormalities, curvature of the spine and a particular set of facial features including a highly arched palate, and crowded teeth. The most significant of the defects in the syndrome are cardiovascular abnormalities, which may include enlargement (dilatation) of the base of the aorta. Since Marfan syndrome is usually an inherited disorder, prospective parents with a family history of Marfan syndrome should get genetic counseling.Marfan syndromeillustrationRelated Information Rickets(Condition) Review Date: 10/20/2024 Reviewed By: Neil K. Kaneshiro, MD, MHA, Clinical Professor of Pediatrics, University of Washington School of Medicine, Seattle, WA. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. 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Skeletal limb abnormalitiesSkeletal limb abnormalities refers to a variety of bone structure problems in the arms or legs (limbs). 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.RicketsRickets is a disorder that occurs in children before bone growth is complete. It is caused by a lack of vitamin D, calcium, or phosphate. It leads ...ImageRead Article Now Book Mark Article Causes Skeletal limb abnormalities may be due to any of the following:Cancer CancerCancer is the uncontrolled growth of abnormal cells in the body. Cancerous cells are also called malignant cells.ImageRead Article Now Book Mark Article Genetic diseases and chromosomal abnormalities, including Marfan syndrome, Down syndrome, Apert syndrome, and Basal cell nevus syndrome Marfan syndromeMarfan syndrome is a disorder of connective tissue. This is the tissue that strengthens the body's structures. Disorders of connective tissue affect...ImageRead Article Now Book Mark Article Down syndromeDown syndrome is a genetic condition in which a person has 47 chromosomes instead of the usual 46.Read Article Now Book Mark Article Apert syndromeApert syndrome is a genetic disease in which the seams between the skull bones close earlier than normal. This affects the shape of the head and fac...ImageRead Article Now Book Mark Article Basal cell nevus syndromeNevoid basal cell carcinoma syndrome is a group of conditions passed down through families. The disorder involves the skin, nervous system, eyes, en...ImageRead Article Now Book Mark Article Improper position in the womb Infections during pregnancy Injury during birth Malnutrition MalnutritionMalnutrition is the condition that occurs when your body does not get enough nutrients.ImageRead Article Now Book Mark Article Metabolism problems MetabolismMetabolism refers to all the physical and chemical processes in the body that convert or use energy, such as:BreathingCirculating bloodControlling bo...ImageRead Article Now Book Mark Article 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 When to Contact a Medical Professional Contact your health care provider if you have any concerns about limb length or appearance. 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. The diagnosis is based on a family history, your medical history, and a thorough physical evaluation.Medical history questions may include:Does anyone in your family have skeletal abnormalities? Were there any problems during pregnancy? What illicit 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.Chromosome studiesKaryotyping is a test to examine chromosomes in a sample of cells. This test can help identify genetic problems as the cause of a disorder or diseas...ImageRead Article Now Book Mark Article EnzymeEnzymes are complex proteins that cause a specific chemical change. For example, they can help break down the foods we eat so the body can use them....Read Article Now Book Mark Article Open ReferencesReferencesHerring 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.
