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Congenital Scoliosis

Article
Bone, Muscle, & Joint
Diseases & Conditions
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Contributed byMaulik P. Purohit MD MPHSep 16, 2020

What are the other Names for this Condition? (Also known as/Synonyms)

  • Congenital Postural Scoliosis (Disorder)
  • Congenital Synspondylism
  • Spondylocarpotarsal Synostosis Syndrome (causing Congenital Scoliosis)

What is Congenital Scoliosis? (Definition/Background Information)

  • Congenital Scoliosis is a spinal condition in which there is a sideways curvature of the spine, which results from an abnormal deformity that is present at birth
  • Scoliosis is a common medical disorder characterized by abnormal curvature of the spine; a side to side spinal curve is observed. This disorder is caused by a defect that causes the spine (or the backbone) to bend or curve sideways, to look like an “S” or “C” instead of an “I”
  • Even though bone malformations may be present in newborn infants at birth, Scoliosis may not develop until the child reaches adolescence
  • Congenital Scoliosis is a rare condition and is observed, only in approximately, 1 out of every 10,000 newborn infants

Who gets Congenital Scoliosis? (Age and Sex Distribution)

  • Congenital Scoliosis is a spinal birth deformity that can occur in both boys and girls, of all race and ethnic groups
  • However, this spinal defect predominantly develops in girls, for unknown (idiopathic) reasons

What are the Risk Factors for Congenital Scoliosis? (Predisposing Factors)

Risk factors for Congenital Scoliosis include:

  • Neurological defects during fetal development in the uterus, leading to spinal abnormalities
  • Scientific studies have indicated that a high percentage of Congenital Scoliosis defects are not hereditary, unless there is a genetic component associated with the cause of the deformity. Bone structure malformations alone may not indicate a genetic prevalence

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Congenital Scoliosis? (Etiology)

Congenital Scoliosis is caused by a birth defect that causes the spine or the backbone to bend or curve sideways to look like an “S” or “C” instead of an “I”. The possible causes may include neuromuscular conditions, such as:

  • Cerebral palsy: A disabling disorder that impedes a child’s development
  • Muscular dystrophy: A genetic disorder that involves abnormal muscle weakness and loss of muscle tissues

What are the Signs and Symptoms of Congenital Scoliosis?

Some common signs and symptoms associated with Congenital Scoliosis include:

  • Bend or curve in the spine; leaning to one side (more than normal)
  • A tilted head
  • Shoulder blade protrusion
  • Uneven hip, shoulders, neckline; tilted pelvis
  • Uneven profile of the upper back, while bending
  • Difficulty breathing
  • Unequal size of breasts, in growing girls

How is Congenital Scoliosis Diagnosed?

A diagnosis of Congenital Scoliosis involves:

Physical examination: A thorough physical examination with spinal examination and complete medical history can usually help confirm if a child has Congenital Scoliosis. During physical examination of the child, the physician will check to see, if:

  • The shoulders are level
  • The head is centered, with respect to the shoulders
  • The entire body is symmetrical
  • The rib cage is level, when bending forward

Imaging tests and other tests, physicians may use to diagnose Congenital Scoliosis, include:

  • X-ray: X-rays can confirm if a child has the condition. A physician will use an X-ray image, to also measure the curvature of the spine
  • Computerized tomography (CT): A CT scan provides a higher resolution image, and when combined with an X-ray, are helpful tools in identifying spinal abnormalities
  • MRI of the spine: An MRI is a more detailed scan that uses radio waves and a magnetic field to produce images of the bones and soft tissue
  • EOS medical imaging: EOS imaging uses digital radiography to create front and side, 3D images of the spine. These images can identify any abnormalities within the vertebra, or lower extremities
  • General ultrasound imaging: An ultrasound imaging equipment uses high-frequency sound waves to generate pictures of the body insides
  • Pulmonary function tests (PFT): These are a group of tests to thoroughly evaluate the respiratory system. It includes a complete medical history, physical and spinal examination, X-ray of the chest, arterial blood gas analysis, and testing for pulmonary/lung function
  • Chromosomal analysis (karyotyping): This test is useful in studying chromosomes within a sample of cells. It may help discover any genetic abnormalities that are the result of any diseases or disorders. Chromosomal analysis can help:
  • Calculate the number of chromosomes
  • Look for changes within the chromosomal structures

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Congenital Scoliosis?

Complications associated with Congenital Scoliosis may include:

  • Lung damage: In infants, the rib cage may press against the lungs, affecting their breathing
  • Heart damage: The rib cage presses against the chest/heart, affecting heart function
  • Deformity of the spine causing postural problems, like a humpback

Serious medical health problems that are associated with Congenital Scoliosis may include:

  • Kidney, heart, and bladder abnormalities
  • Nerve damage

How is Congenital Scoliosis Treated?

Congenital Scoliosis nonsurgical treatment measures include:

  • In children with mild curves (mild Scoliosis), or those approaching adulthood; periodic monitor and observation of the condition, may be sufficient enough. The periodic check-ups should be at regular intervals of every 4 - 6 months
  • In the case of mild Scoliosis, where the child’s bones are still growing; the physician may recommend a padded brace, to prevent further curve progression. Two types of such brace include:
    • Underarm, or low-profile brace
    • Milwaukee brace

In more severe cases, the children may be sent to a spine specialist, or an orthopedic surgeon. The treatment methods decided upon shall be based on the following factors:

  • Age of the child
  • How much more the child will grow
  • Degree of the curve
  • Pattern of the curve
  • The type of Scoliosis present

Surgical treatment measures for Scoliosis are mostly used in children or adolescents, with curvatures greater than 50 degrees. Surgery is also used sometimes in individuals, whose spinal defect is much smaller, or proves bothersome. The purpose of undergoing a surgical procedure is to correct the curvature of the spine and stop progression of the condition.

  • Hemivertebra excision: Hemivertebra excision is a surgical procedure that involves the removal of a hemivertebra (an abnormal-shaped vertebra, due to its incomplete formation). After the hemivertebra is removed, orthopedic devices, such as metal screws and rods, are inserted into the spine and under the hemivertebra, to help stabilize the spine while it heals
  • Spinal fusion: Spinal fusion is a corrective surgical procedure that involves permanently fusing two or more bones together, within the vertebral column. The fused bones are rigid and it eliminates any potential (and unwanted) movement. A spinal fusion procedure is usually performed, once a child has stopped growing
  • Growing rod insertion: Spinal fusion is not an effective method to treat Scoliosis in children who are still growing. It may damage the development of their chest and lungs. Therefore, growth rod insertion surgical procedure is used. It is a procedure that involves attaching one or more rods to the spine, to repair the spinal abnormality, while allowing for a normal growth. These rods are a temporary measure, until a spinal fusion can be performed, when the child is fully grown

How can Congenital Scoliosis be Prevented?

There are no known preventive measures for Congenital Scoliosis. However, early detection and treatment of the condition may help reduce, progression of the spinal curve.

What is the Prognosis of Congenital Scoliosis? (Outcomes/Resolutions)

  • When a child’s congenital spinal abnormality is initially identified, it is unclear how much the malformation will progress, as the child ages. Abnormalities within the thoracic spine region are more likely to progress
  • It is very important to closely monitor the child’s spinal growth during the first 5-years of their life and around the period of adolescence. Adolescence is the stage where the spine usually grows the fastest
  • The long-term prognosis of Congenital Scoliosis is usually excellent, if the disorder is diagnosed and treated early

Additional and Relevant Useful Information for Congenital Scoliosis:

There are 5 different types of Scoliosis. These are:

  • Congenital Scoliosis
  • Infantile Scoliosis
  • Juvenile Scoliosis
  • Idiopathic Scoliosis in Children & Adolescents
  • Neuromuscular Scoliosis
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Maulik P. Purohit MD MPH picture
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Maulik P. Purohit MD MPH

Assistant Medical Director, Medical Editorial Board, DoveMed Team

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