NORD gratefully acknowledges Elizabeth C. Engle, MD, Professor of Neurology and Ophthalmology, Children's Hospital Boston and Harvard Medical School, and Max A. Tischfield, PhD, Johns Hopkins Medical School, for assistance in the preparation of this report.
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.
The information in NORD’s Rare Disease Database is for educational purposes only and is not intended to replace the advice of a physician or other qualified medical professional.
The content of the website and databases of the National Organization for Rare Disorders (NORD) is copyrighted and may not be reproduced, copied, downloaded or disseminated, in any way, for any commercial or public purpose, without prior written authorization and approval from NORD. Individuals may print one hard copy of an individual disease for personal use, provided that content is unmodified and includes NORD’s copyright.
National Organization for Rare Disorders (NORD)
55 Kenosia Ave., Danbury CT 06810 • (203)744-0100