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What is Pseudoachondroplasia?

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There are many types of birth defects, some cause severe complications as the child grows while some do not cause any serious issues. In this post, we are going to talk about one of the orthopedic birth defects that result in some serious problems with the growth of the child. The defect that we are talking about is known as Pseudoachondroplasia.

Pseudoachondroplasia is a type of dwarfism that is inherited either from the father or the mother. It is a rare condition that is present by birth. This condition affects the bone growth of the child. It occurs due to genetic mutation and is mainly characterized by short stature and an average face and head size. Though this is a birth defect, the signs and symptoms are not visible until the child is 2. After the child grows 2, the growth rate of the child starts to decrease drastically.

In some cases, Pseudoachondroplasia can also occur due to gene mutation after birth without having any family history of the condition.

Causes of Pseudoachondroplasia

As we know Pseudoachondroplasia occurs due to a gene mutation. This takes place in cartilage oligomeric matrix protein (COMP). This gene helps in the synthesis of COMP protein which is a part of cells that form ligaments, tendons, and bones.

The mutation in this gene causes early cell death and prevents normal bone growth.

Severe cases of the condition may require surgery and it may also involve the use of Ortho Implants.

Symptoms of Pseudoachondroplasia

Pseudoachondroplasia affects multiple systems in the body of the affected child, and the symptoms are based on the systems affected. Some of the common symptoms associated with the condition include:

  • Short arms and legs
  • Delayed crawling and walking
  • Joint pain that may be seen at the early age
  • Reduced range of motion of elbows and hips
  • Spinal curvature
  • Deformities of the knee
  • Hyperextensibility in the hands, knees, and ankles
  • Hip displacement

Diagnosis of Pseudoachondroplasia

Diagnosis of the condition often starts with the medical history and physical examination of the child. Pseudoachondroplasia is a rare condition, and a variety of tests are required for correct diagnosis. The tests performed may include:

  • X-rays to get the images of the bones
  • MRI to produce detailed images of the organs and structures inside the body
  • CT scan to produce cross-sectional images of the body
  • Genetic testing to detect any abnormal DNA inside the child’s body
  • EOS imaging that produces 3-dimensional images

Treatment of Pseudoachondroplasia

As we know that several body systems get affected when a child is suffering from Pseudoachondroplasia thus, the treatment will vary from child to child depending upon the symptoms experienced. Both surgical and non-surgical methods are there for the treatment and the feasible one will be decided by the doctor based on the situation of the child.

Non-Surgical Methods

  • Braces to support the spine
  • Physical therapy
  • Medicines to improve pain

Surgical Methods

  • Spinal fusion surgery
  • Spine stabilization surgery

To get world-class quality spinal implants and other orthopedic devices, contact Siora Surgicals Pvt. Ltd., one of the best Indian-FDA-approved Orthopedic Products Manufacturers.

Source: Plato Data Intelligence: PlatoData.io

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