Congenital Musculoskeletal Defects

Congenital musculoskeletal [KAHN-jen-ih-TUHL MUHS-kyuh-loh-SKEL-i-tl] defects happen when a baby is growing in the mother’s womb, and certain bones, muscles, or joints do not develop properly. The muscles or bones in the developing fetus may not develop completely, or structures may be separated or not aligned properly. Birth defects can happen in any muscle or bone.

Usually this causes an abnormal appearance as well as a part of the body that does not function properly. The most common congenital defects appear in the face and skull, spine, and hips.

Cleft Lip/Palate

Cleft lip and/or cleft palate is a common abnormality that affects one in 700 babies annually. Cleft lip and cleft palate may occur separately or together.

Arthrogryposis

Arthrogryposis [AR-thruh-gruh-PO-sis] means joint contractures. This when a baby is not able to move around in the womb enough as they are developing, so they are born with joints that are stiff and stuck. It is an umbrella diagnosis that includes many conditions, such as clubbed feet, extended/flexed knees or elbows, or dislocated hips.

Developmental Dysplasia of the Hip

Developmental dysplasia [dih-VEL-uhp-MEN-tl dis-PLEY-zhuh] of the hip (DDH), which used to be called congenital dislocation of the hip, is when the newborn’s hip socket and thigh bone become separated. This can occur when the hip socket isn’t deep enough to hold the head of the thigh bone (femur).

Other Anomalies

Other defects include a small lower jaw, an abnormally curved or malformed spine, or other limb and joint anomalies.

Treatment for congenital conditions depends on your child’s diagnosis and unique needs. Treatment can include surgery or nonsurgical therapies, such as physical therapy, splints or braces. Surgery for congenital defects is complex but can repair many issues if symptoms are troublesome. Sometimes multiple surgeries are required to reconstruct deformed or absent body parts. Your doctor will work with you to help you determine if surgery is right for your child.

Congenital anomalies include any limbs or joints that are deformed, incompletely formed at birth, or missing. Common defects occur in the:

• Skull and face. Cleft lip and palate may appear as a split in the lip and roof (palate) of the mouth, a split or notch in the lip, a split in the roof of the mouth that doesn’t affect facial appearance; or, less commonly, a split in the soft palate at the back of the mouth, which may not be noticed at birth. Symptoms of a cleft lip or palate include problems with feeding and swallowing.
• Hip. In developmental dysplasia of the hip (DDH), the femur does not fit properly into the hip bone socket. Symptoms of hip dysplasia in babies include having one leg longer than the other. Older children with hip dysplasia might have a limp.
• Spine. Spina bifida is a condition where the neural tube does not completely close. Symptoms of spina bifida include weakness in the legs, seizures, and problems with the bladder and bowels. Less common than spina bifida is congenital scoliosis, which is a sideways curvature of the spine.
• Muscles. Anomalies may also occur in the muscles, such as different types of muscular dystrophy, hernia, or abdominal wall defects. Common symptoms of a hernia are a swelling or bulge in the groin. Muscular dystrophy symptoms might not appear before age 2 or 3 and include problems with balance and walking, running, and jumping.

Many congenital defects are noticed at birth. If you see symptoms that suggest your child may have a congenital anomaly that the doctor has not diagnosed, such as a cleft in the soft palate, see your child’s pediatrician.

In the case of dysplasia of the hip, the condition is more common among girls as well as among babies born in breech (buttocks first) position. Arthrogryposis develops when a baby developing in the mother’s uterus is not able to move properly, so the joints don’t develop normally.

The cause of many other congenital musculoskeletal defects is unknown. They may be due to genes passed down by the mother or father, making a baby more likely to develop a condition. Sometimes an environmental trigger may cause the defect.

During pregnancy, your doctor will monitor your health, along with your baby’s growth and development. Some congenital defects can be diagnosed by ultrasound. Others may be diagnosed based on a physical examination, x-rays, or other tests of your newborn.

A few congenital anomalies can be fixed with a medical device, such as a brace or an artificial limb. For DDH, your child’s doctor may recommend a brace such as a Pavlik [PAHV-lik] harness to gently position your baby’s hips so they are aligned in the joint as your baby grows. Other nonsurgical treatment may include casting; stretching; and physical, occupational, or speech therapy, depending on your child’s condition.

Surgery for congenital anomalies is often recommended if symptoms are severe. Surgery to repair or reconstruct congenital defects can be complex. Your child’s doctor will make recommendations based on your child’s specific needs.

Often, the cause of congenital defects is unknown. However, pregnant women can take some precautions to ensure the best possible outcomes for their babies, such as:

• Taking folic acid (a B vitamin) for at least a month before and throughout pregnancy, which can help prevent major birth defects of the brain and spine
• Letting your doctor and other health care providers know that you are pregnant or planning to become pregnant
• Avoiding exposure to radiation
• Avoiding harmful substances, such as street drugs, alcohol, and smoking
• Asking your doctor or pharmacist about potential side effects or dangers to pregnant women of over-the-counter and prescription drugs
• Taking care of yourself by maintaining a healthy diet and properly managing diabetes, if applicable
• Preventing infections as much as possible with healthy practices such as cooking meat thoroughly, washing your hands often, and trying to stay away from people who are sick

International Hip Dysplasia Institute

Arthrogryposis Multiplex Congenita Support, Inc.

Cleft Palate Foundation (CPF)

When a woman is pregnant, some of the bones or muscles in her developing baby may not grow properly. This is known as a congenital musculoskeletal [KAHN-jen-ih-TUHL MUHS-kyuh-loh-SKEL-i-tl] defect. Congenital means occurring before birth. Musculoskeletal means affecting the body’s bones and muscles.

Some common congenital defects include cleft lip, cleft palate, dysplasia of the hip (DDH), and arthrogryposis [AR-thruh-gruh-PO-sis], or joint contractures. These and other anomalies [uh-nom-uh-lees] or abnormalities of the bones and muscles can often be corrected with surgery or other treatments such as splints and braces.