Abruzzo Erickson Syndrome: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 2, 2026.
What kind of doctor treats Abruzzo Erickson Syndrome?
A primary care doctor usually coordinates care, and other specialists are often involved, including a geneticist, an ear, nose, and throat doctor, and a surgeon who may repair a cleft palate. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is abruzzo erickson syndrome?
Abruzzo erickson syndrome is a very rare condition that a person is born with, caused by a change in a gene. Doctors believe it affects how the face, ears, and bones form before birth.
Abruzzo erickson syndrome belongs to a group of conditions called genetic syndromes. A syndrome is a set of health problems that happen together and come from a single cause. Each person is affected differently.
Symptoms
The signs can vary a lot. Reported features include a cleft palate, which is an opening in the roof of the mouth, and hearing loss ranging from mild to severe. Some people have unusual facial features, such as widely spaced eyes or a small lower jaw, while others have differences in the hands or bones.
Causes and who gets it
The condition is caused by a change in a gene called TBX22, which sits on the X chromosome. The condition is X-linked, so it mostly affects males and is usually passed down by mothers who carry the gene change, though it can sometimes arise for the first time in a child.
How doctors diagnose it
Diagnosis often starts with a physical exam and a detailed history. A doctor may order genetic testing, and hearing tests can check for hearing loss. A team of doctors often works together to confirm the diagnosis.
Treatment
There is no cure, and treatment focuses on managing each symptom. A cleft palate is usually repaired with surgery, and hearing loss may be managed with hearing aids or other support. Children with learning delays may benefit from therapy and special education services.
When to see a doctor
A parent should talk to a doctor if a child has an opening in the roof of the mouth, trouble hearing, or unusual facial features, or if a child is missing developmental milestones.
How a direct primary care or concierge doctor fits in
A direct primary care doctor is one the patient pays with a flat monthly fee instead of using insurance; a concierge doctor works similarly but usually costs more. Either type can handle everyday care and referrals to specialists.
Common questions
Is abruzzo erickson syndrome life threatening?
Most published reports describe people living into adulthood with this condition. The outlook depends on which features a person has and how well those features are managed. A doctor familiar with the person's case can give more specific information.
Can it be prevented?
There is no known way to prevent the gene change that causes this condition. People with a family history of the condition can talk to a genetic counselor, who is a trained expert who explains inherited conditions and testing options.
Will my children inherit it?
In some families the gene change is passed down, and in others it appears for the first time in a child. A genetic counselor or geneticist can test family members and explain the chances of passing the condition on.
Sources
- NIH Genetic and Rare Diseases Information Center - Abruzzo-Erickson syndrome
- National Organization for Rare Disorders (NORD) - Abruzzo-Erickson syndrome - National Organization for Rare Disorders
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
