Pseudoachondroplasia

Definition

Pseudoachondroplasia is a rare skeletal dysplasia characterized by short stature, joint laxity, and early osteoarthritis.

Symptoms

  • Short stature
  • Joint laxity
  • Early osteoarthritis
  • Lordosis and kyphosis

Reasons

COMP gene mutation.

Diagnosis

Clinical findings, genetic testing.

Treatment

Orthopedic treatment.

Which Polyclinic Should You Apply To?

Orthopedic Polyclinic

What to Do in an Emergency?

In case of acute joint pain, emergency services should be consulted.

This page is for general information purposes only.