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
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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

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.