Important
It is possible that the main title of the report Human HOXA1 Syndromesis not the name you expected.
Synonyms
- Athabaskan Brainstem Dysgenesis Syndrome (ABDS)
- Bosley-Salih-Alorainy Syndrome (BSAS)
- Navaho Brainstem Syndrome
General Discussion
Human HOXA1 syndromes are very rare disorders with complex neurological and systemic symptoms, and complex geographical distribution in the United States and worldwide. These syndromes are found among a few American Indian tribes such as the Navaho and Apaches, who are related to Athabaskan Indians of northern Canada.
Recently, a very similar disease was recognized among groups of four related Saudi Arabian families and one Turkish family . Various names have been applied (see the synonyms above), but the name human HOXA1 syndromes is used here because it is not linked to a specific geographic location.
In each of the clusters of cases, the identity of the disorder was determined by genetic studies of the parents and affected children. Apparently, each affected child acquires a copy of the same mutated gene from each of the parents (homozygosity). The abnormal gene has been identified and its location on chromosome 7 has been determined.
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders, Inc. (r) (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org
Last Updated: 5/9/2006
Copyright 2006National Organization for Rare Disorders, Inc.
