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Human HOXA1 Syndromes
National Organization for Rare Disorders, Inc.
- Bosley-Salih-Alorainy syndrome (BSAS)
- Navajo brainstem syndrome
- Athabaskan brainstem dysgenesis syndrome (ABDS)
Human HOXA1 syndromes are rare disorders with complex neurological and systemic symptoms. These syndromes are found among a few American Indian tribes such as the Navajo and Apaches, who are related to Athabaskan Indians of northern Canada.
It is also found in consanguineous Saudi Arabian and Turkish families. Various names have been applied (see the synonyms above), but the name human HOXA1 syndromes is generally used because it is not linked to a specific geographic location.
The identity of the disorder was determined by genetic studies of the parents and affected children. To date, each affected child acquires a copy of the same mutated gene from each of the parents (homozygosity) who share ancestral relationships. The abnormal gene has been identified and its location on chromosome 7 has been determined. Human HOXA1 syndromes are inherited as autosomal recessive genetic conditions.
Genetic and Rare Diseases (GARD) Information Center
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Gaithersburg, MD 20898-8126
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, 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 email@example.com
Last Updated: 9/2/2010
Copyright 2006, 2010 National Organization for Rare Disorders, Inc.