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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
Hematology Oncology | Hematology | Oncology
Advanced in Abruzzo-Erickson Syndrome
Hematology Oncology | Hematology | Oncology

Wk Hematology Oncology Associates

2600 Kings Hwy, Suite 340, 
Shreveport, LA 
Languages Spoken:
English
Accepting New Patients

Joyce Feagin is a Hematologist Oncology specialist and a Hematologist in Shreveport, Louisiana. Dr. Feagin is rated as an Advanced provider by MediFind in the treatment of Abruzzo-Erickson Syndrome. Her top areas of expertise are Inflammatory Breast Cancer, Colorectal Cancer, Familial Colorectal Cancer, and Paget Disease of the Breast. Dr. Feagin is currently accepting new patients.

Cheng Her
Experienced in Abruzzo-Erickson Syndrome
Family Medicine
Experienced in Abruzzo-Erickson Syndrome
Family Medicine

Viaro Professional Arts Ltd Health Care

230 Pine St, 
La Crosse, WI 
Languages Spoken:
English

Cheng Her is a primary care provider, practicing in Family Medicine in La Crosse, Wisconsin. Dr. Her is rated as an Experienced provider by MediFind in the treatment of Abruzzo-Erickson Syndrome. His top areas of expertise are Cerebral Palsy, Char Syndrome, Vici Syndrome, and Cohen Syndrome.

 
 
 
 
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Philip L. Goolsby
Experienced in Abruzzo-Erickson Syndrome
Family Medicine
Experienced in Abruzzo-Erickson Syndrome
Family Medicine

Aurora Family Medicine

1565 Allouez Ave, 
Green Bay, WI 
Languages Spoken:
English

Philip Goolsby is a primary care provider, practicing in Family Medicine in Green Bay, Wisconsin. Dr. Goolsby is rated as an Experienced provider by MediFind in the treatment of Abruzzo-Erickson Syndrome. His top areas of expertise are Monoclonal Gammopathy of Undetermined Significance (MGUS), Schnitzler Syndrome, Movement Disorders, and Parkinson's Disease.

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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

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