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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
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.

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 
Experience:
44+ years
Languages Spoken:
English

Philip Goolsby is a primary care provider, practicing in Family Medicine in Green Bay, Wisconsin. Dr. Goolsby has been practicing medicine for over 44 years and is rated as an Experienced provider by MediFind in the treatment of Abruzzo-Erickson Syndrome. His top areas of expertise are Schnitzler Syndrome, Monoclonal Gammopathy of Undetermined Significance (MGUS), Movement Disorders, and Parkinson's Disease.

 
 
 
 
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David S. Stolp
Experienced in Abruzzo-Erickson Syndrome
Family Medicine
Experienced in Abruzzo-Erickson Syndrome
Family Medicine

Aurora Family Medicine

2424 S 90th St, Ste 200, 
West Allis, WI 
Languages Spoken:
English

David Stolp is a primary care provider, practicing in Family Medicine in West Allis, Wisconsin. Dr. Stolp is rated as an Experienced provider by MediFind in the treatment of Abruzzo-Erickson Syndrome. His top areas of expertise are Cerebral Palsy, Nijmegen Breakage Syndrome, Ruvalcaba Syndrome, and Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant.

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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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