Acromesomelic Dysplasia

Definition

Acromesomelic dysplasia is a rare skeletal dysplasia characterized by significant shortness of hands and feet.

Symptoms

  • Shortness of hands and feet
  • Short stature
  • Normal intelligence
  • Progressive deformities

Reasons

NPR2 or GDF5 gene mutations.

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 respiratory distress, emergency services should be consulted.

This page is for general information purposes only.