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.
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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?
SP
Siddaramappa J. Patil
Distinguished
Highly rated in
14
conditions

Division Of Medical Genetics

Mazumdar Shaw Medical Centre, 
Bengaluru, KA, IN 

Siddaramappa Patil practices in Bengaluru, India. Patil is rated as a Distinguished expert by MediFind in the treatment of Athabaskan Brain Stem Dysgenesis. They are also highly rated in 14 other conditions, according to our data. Their top areas of expertise are Athabaskan Brain Stem Dysgenesis, Hypoplasia of the Tibia with Polydactyly, Knobloch Syndrome, and Learman Syndrome.

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 Athabaskan Brain Stem Dysgenesis. 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.

 
 
 
 
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KG
Katta M. Girisha
Distinguished
Highly rated in
83
conditions

Manipal Academy Of Higher Education

Kasturba Medical College, 
Manipala, KA, IN 

Katta Girisha practices in Manipala, India. Girisha is rated as a Distinguished expert by MediFind in the treatment of Athabaskan Brain Stem Dysgenesis. They are also highly rated in 83 other conditions, according to our data. Their top areas of expertise are Schwartz-Jampel Syndrome, X-Linked Spondyloepiphyseal Dysplasia Tarda, Chondrodystrophy, and Brachydactyly Mononen Type.

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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
Enrollment Status: Recruiting
Publish Date: September 26, 2022

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

What are the Latest Advances for Athabaskan Brain Stem Dysgenesis?

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.