Abruzzo-Erickson Syndrome

What is Abruzzo-Erickson Syndrome?

Abruzzo-Erickson Syndrome is an inherited medical condition that is most noticeable characteristic is a cleft palate — a large opening in the roof of the mouth. Deafness and short stature are also notable affects of Abruzzo-Erickson Syndrome.

The presentation of symptoms may occur at birth. The disorder predominantly affects males. A large percentage of Abruzzo-Erickson Syndrome patients have issues with their hearing. It is one the primary focuses when putting together a treatment plan for these patients.

What are the symptoms of Abruzzo-Erickson Syndrome?

Common symptoms of Abruzzo-Erickson Syndrome include the following:

• Patients ears are large and protrude
• The spacing between the second and third fingers is wider than normal
• Patients fingers all angle towards the fifth finger
• Facial asymmetry — there is a difference in shape and proportion between the left and right sides of the face
• Dental aberrations
• Congenital heart defects

What causes Abruzzo-Erickson Syndrome?

Researchers are not clear on the exact cause of Abruzzo-Erickson Syndrome, but believe it may derive from mutations in the TBX22 gene. The condition is inherited in an X-linked recessive manner. Positive family history is an important risk factor since Abruzzo-Erickson Syndrome seems to have a genetic component to it.

How is Abruzzo-Erickson Syndrome diagnosed?

Abruzzo-Erickson Syndrome is diagnosed on the basis of a complete physical examination, especially of the ears. Since Abruzzo-Erickson Syndrome is inherited, a complete medical history is also taken. A complete evaluation of symptoms and signs is the next step. Additional assessments may be made based on the results of laboratory tests, biopsies and imaging studies.

What are the treatments for Abruzzo-Erickson Syndrome?

There is no cure for Abruzzo-Erickson Syndrome. The focus of treatment is on the management of the various symptoms of each individual. Many of these patients go on to live long and productive lives as long as treatment is initiated at an early age. These children have many life-threatening conditions that need to be managed, but with proper management and advances in medical care, these patients live happy lives.

Where can I find out more about Abruzzo-Erickson Syndrome?

• NIH
• Check Orphan
• DoveMed