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Copyright 2006
NORD is grateful to Elizabeth C. Engle, MD, Associate Professor of Neurology, Children's Hospital Boston and Harvard Medical School, and Max A. Tischfield, PhD candidate, Harvard Medical School, for assistance in the preparation of this report.
Synonyms of Human HOXA1 Syndromes
- Athabaskan Brainstem Dysgenesis Syndrome (ABDS)
- Bosley-Salih-Alorainy Syndrome (BSAS)
- Navaho Brainstem Syndrome
Disorder Subdivisions
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.
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Organizations related to Human HOXA1 Syndromes
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: http://rarediseases.info.nih.gov/GARD/EmailForm.aspx
Home page: http://rarediseases.info.nih.gov/GARD
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