Athabaskan Brain Stem Dysgenesis
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Athabaskan Brain Stem Dysgenesis Overview

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Learn About Athabaskan Brain Stem Dysgenesis

What is the definition of Athabaskan Brain Stem Dysgenesis?
Human HOXA1 Syndromes are very rare disorders present at birth mainly affecting the development of the ears, eyes, and cardiovascular system. The main symptoms include inability to move the eyes to the sides (horizontal gaze paralysis), deafness, and birth defects involving blood flow in and out of the heart. Human HOXA1 Syndromes have been described in Native American populations (primarily the Navajo and Apache Indians) and in a few Saudi Arabian and Turkish families. Symptoms may vary by population. Human HOXA1 Syndromes are caused by genetic changes (DNA variants) in the HOXA1 gene and inherited in an autosomal recessive pattern. Diagnosis is made based on the symptoms and confirmed by genetic testing.
What are the alternative names for Athabaskan Brain Stem Dysgenesis?
  • Human HOXA1 Syndromes
  • ABDS
  • Athabaskan Brainstem Dysgenesis
  • Athabaskan Brainstem Dysgenesis Syndrome
  • BSAS
  • Bosley Salih Alorainy syndrome
  • Navajo brainstem syndrome
Who are the top Athabaskan Brain Stem Dysgenesis Local Doctors?
Advanced in Athabaskan Brain Stem Dysgenesis
Dr. Alvaro H. Russi
Pediatrics
Advanced in Athabaskan Brain Stem Dysgenesis
Dr. Alvaro H. Russi
Pediatrics

ETSU Physicians & Associates- Pediatrics

325 N State Of Franklin Rd, 
Johnson City, TN 
423-439-7320
Languages Spoken:
English
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. Dr. Russi is rated as an Advanced provider by MediFind in the treatment of Athabaskan Brain Stem Dysgenesis. 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 Athabaskan Brain Stem Dysgenesis
Dr. Donald J. Weaver
Pediatric Nephrology
Experienced in Athabaskan Brain Stem Dysgenesis
Dr. Donald J. Weaver
Pediatric Nephrology

Atrium Health Levine Children's Nephrology

1001 Blythe Blvd., Suite C, 
Charlotte, NC 
704-381-8800
Languages Spoken:
English
See accepted insurances
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 Athabaskan Brain Stem Dysgenesis. His top areas of expertise are Posterior Urethral Valves, Togaviridae Disease, Feingold Syndrome, and Congenital Nephrotic Syndrome. Dr. Weaver is currently accepting new patients.

 
 
 
 
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Sunil Pauwaa
Experienced in Athabaskan Brain Stem Dysgenesis
Dr. Sunil Pauwaa
Advanced Heart Failure and Transplant Cardiology
Experienced in Athabaskan Brain Stem Dysgenesis
Dr. Sunil Pauwaa
Advanced Heart Failure and Transplant Cardiology

Advocate Heart Institute

10837 S Cicero Ave, Ste 200, 
Oak Lawn, IL 
708-636-7575
Languages Spoken:
English
See accepted insurances

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 Athabaskan Brain Stem Dysgenesis. His top areas of expertise are Heart Failure, Pulmonary Veno-Occlusive Disease, Pulmonary Hypertension, Hypertensive Heart Disease, and Heart Transplant.

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What are the latest Athabaskan Brain Stem Dysgenesis Clinical Trials?
Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies
Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies
Enrollment Status: Recruiting
Publish Date: February 11, 2026

Summary: The purpose of this study is to identify genes associated with impaired development and function of the cranial nerves and brainstem, which may result in misalignment of the eyes (strabismus) and related conditions.

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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