Abruzzo-Erickson Syndrome
Symptoms, Doctors, Treatments, Advances & More

Save information for later
Sign Up

Learn About Abruzzo-Erickson Syndrome

What is the definition of Abruzzo-Erickson Syndrome?
Abruzzo-Erickson syndrome is an extremely rare condition characterized by cleft palate, coloboma, hypospadius, deafness, short stature, and radioulnar synostosis. Although the underlying cause of the condition is still being studied, it appears to result, at least in part, from genetic changes in the TBX22 gene. The condition is inherited in an X-linked recessive manner.
What are the alternative names for Abruzzo-Erickson Syndrome?
  • Abruzzo-Erickson syndrome
  • CHARGE like syndrome X-linked
Who are the top Abruzzo-Erickson Syndrome Local Doctors?
Advanced in Abruzzo-Erickson Syndrome
Advanced in Abruzzo-Erickson Syndrome

ETSU Physicians & Associates- Pediatrics

325 N State Of Franklin Rd, 
Johnson City, TN 
Languages Spoken:
English

. Dr. Russi is rated as an Advanced provider by MediFind in the treatment of Abruzzo-Erickson Syndrome. His top areas of expertise are Increased Head Circumference, Ehlers-Danlos Syndrome (EDS), Chromosome 8p Deletion, and Chromosome 6q Duplication.

Donald J. Weaver
Experienced in Abruzzo-Erickson Syndrome
Pediatric Nephrology
Experienced in Abruzzo-Erickson Syndrome
Pediatric Nephrology

Atrium Health Levine Children's Nephrology

1001 Blythe Blvd., Suite C, 
Charlotte, NC 
Languages Spoken:
English
Accepting New Patients
Offers Telehealth

Donald Weaver is a Pediatric Nephrologist in Charlotte, North Carolina. Dr. Weaver is rated as an Experienced provider by MediFind in the treatment of Abruzzo-Erickson Syndrome. His top areas of expertise are Posterior Urethral Valves, Togaviridae Disease, Feingold Syndrome, and Congenital Nephrotic Syndrome. Dr. Weaver is currently accepting new patients.

 
 
 
 
Learn about our expert tiers
Learn More
Sunil Pauwaa
Experienced in Abruzzo-Erickson Syndrome
Advanced Heart Failure and Transplant Cardiology
Experienced in Abruzzo-Erickson Syndrome
Advanced Heart Failure and Transplant Cardiology

Advocate Heart Institute

10837 S Cicero Ave, Ste 200, 
Oak Lawn, IL 
Languages Spoken:
English

Sunil Pauwaa is an Advanced Heart Failure and Transplant Cardiologist in Oak Lawn, Illinois. Dr. Pauwaa is rated as an Experienced provider by MediFind in the treatment of Abruzzo-Erickson Syndrome. His top areas of expertise are Heart Failure, Pulmonary Veno-Occlusive Disease, Pulmonary Hypertension, Hypertensive Heart Disease, and Heart Transplant.

What are the latest Abruzzo-Erickson Syndrome Clinical Trials?
Match to trials
Find the right clinical trials for you in under a minute
Get started
Who are the sources who wrote this article ?

Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

What are the Latest Advances for Abruzzo-Erickson Syndrome?