What You Need to Know

  • Pseudoachondroplasia is usually diagnosed during early childhood and is an inherited genetic disorder.
  • A physical exam and diagnostic tests, including X-rays and arthrograms, are used to diagnose pseudoachondroplasia.
  • Orthopaedic conditions of the spine and hips are also commonly seen in patients with pseudoachondroplasia.
  • Treatment for pseudoachondroplasia varies and is determined based on each patient’s symptoms and associated conditions.

What is pseudoachondroplasia?

Pseudoachondroplasia is a common type of skeletal dysplasia usually recognized in a patient between the ages of 2 and 4 years old. It is a genetic disorder passed on as a recessive disorder (meaning by both parents) and involves the overproduction of cartilage oligomeric matrix protein.

What are the symptoms of pseudoachondroplasia?

  • Height is normal at birth but then goes into the less than fifth percentile by age 2

  • Short extremities

  • Misalignment of the lower extremities with bowing on one side and knock knee on the other side (referred to as a windswept deformity)

  • Premature arthritis in the hips, knees and ankles

Orthopaedic Conditions Commonly Seen in Patients with Pseudoachondroplasia

Orthopaedic conditions common among patients with pseudoachondroplasia include:

  • Cervical instability: an abnormal motion in the neck that can lead to neurological problems

  • Kyphosis. Rounding of the back

  • Scoliosis. The curvature of the spine

  • Hip subluxation. The hips may be coming out of the socket

Pseduoachondroplasia Diagnosis

The doctor makes the diagnosis of pseudoachondroplasia with a complete medical history, physical examination and diagnostic tests.  

Diagnostic procedures may include: 

  • X-rays of the neck, spine, lower extremities and pelvis

  • Arthrograms. injection of dye in the hips, knees and or ankle to assess the cartilage for surgical planning 

Pseudoachondroplasia Treatment

Treatment for pseudoachondroplasia varies depending on the associated orthopaedic conditions that present in the patient and may include:

  • Cervical fusion with the placement of a halo for instability

  • Posterior spinal fusion for scoliosis and kyphosis

  • Pelvic osteotomies for hip subluxation

  • Lower extremity osteotomies to correct the lower leg deformities.

  • Total joint replacement of hips and knees

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