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.
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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?
GP
Dr. Gordon E. Powers
Family Medicine
Distinguished
Highly rated in
93
conditions
Family Medicine

The University of Vermont Health Network

Family Medicine - Milton

28 Centre Dr, 
Milton, VT 

Gordon Powers is a Family Medicine expert in Milton, Vermont. Powers has been practicing medicine for over 10 years and is rated as a Distinguished expert by MediFind in the treatment of Abruzzo-Erickson Syndrome. He is also highly rated in 93 other conditions, according to our data. His top areas of expertise are Feingold Syndrome, DOOR Syndrome, Nijmegen Breakage Syndrome, 47 XYY Syndrome, and Endoscopy.

CH
Cheng Her
Dr. Cheng Her
Family Medicine
Advanced
Highly rated in
83
conditions
Family Medicine

1836 South Ave, 
La Crosse, WI 

Cheng Her is a Family Medicine expert in La Crosse, Wisconsin. Her has been practicing medicine for over 27 years and is rated as an Advanced expert by MediFind in the treatment of Abruzzo-Erickson Syndrome. He is also highly rated in 83 other conditions, according to our data. His top areas of expertise are Hennekam Syndrome, Cockayne Syndrome Type 1, Blepharocheilodontic Syndrome, and WAGR Syndrome.

 
 
 
 
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AB
Dr. Alan C. Braverman
Cardiology
Advanced
Highly rated in
98
conditions
Cardiology

BJC HealthCare

Center For Advanced Medicine Heart & Vascular Center

4921 Parkview Pl, 
St. Louis, MO 

Alan Braverman is a Cardiologist in St. Louis, Missouri. Braverman has been practicing medicine for over 38 years and is rated as an Advanced expert by MediFind in the treatment of Abruzzo-Erickson Syndrome. He is also highly rated in 98 other conditions, according to our data. His top areas of expertise are Aortic Dissection, Marfan Syndrome, Bicuspid Aortic Valve, Thoracic Aortic Aneurysm, and Pacemaker Implantation. Braverman is currently accepting new patients.

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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?

There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.