Understanding Congenital Musculoskeletal Deformities: Causes, Symptoms, and Management

What is it?

Congenital disorders of the musculoskeletal system can be either isolated or as a part of a syndrome. The deformities may occur in the bones, joints or muscles that did not develop properly during pregnancy- they either do not exist, are seperated or not aligned.. The reason for congenital malformation is not always known, and probably due to chromosomal abnormalities, single- gene mutations, birth malpresentations or environmental factors such as maternal illnesses and maternal drug use during pregnancy. The most common musculoskeletal congenital defects are found in the skull, spine or hips. Cleft lip and palate,developmental dysplasia of the hip (DDH), spina bifida, muscular dystrophies, hernias of abdominal wall defects are common. As well as functional problems, it may also cause abnormality in their appearance.

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Additional names

This group contains additional names:
- Pectus excavatum
- Pectus carinatum
- Vertical talus

Signs & symptoms

Symptoms vary and depend on the specific disorder and tissue affected. Symptoms may include changes in appearance, problems with feeding and swallowing, having one leg longer than the other, limping for older babies, leg weakness, seizure, bladder and and bowels problems, congenital scoliosis, swelling or bulge in the groin, and later in life- balance, walking, running or jumping problems.

Diagnosis

Diagnosis of congenital disorders of the musculoskeletal system can be done in prenatal US, especially during the second and third trimester. After birth, imaging tests like US,
CT and MRI are used to diagnose and to follow up after the patient’s condition.

Treatment

Treatment includes medical devices such as braces or artificial limbs. In other cases, casting may be suggested as well as physical, occupational or speech therapy. Surgery for congenital anomalies is often recommended if symptoms are severe.

☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.

Learn more about our editorial process for content accuracy.

Source of Information - We analyze big data of more than 23 million patients de-identified medical records from the following sources:

National Institution of Health ∙ World Health Organization ∙ University of Illinois hospital