Athabaskan brainstem dysgenesis is characterized by deafness, central hypoventilation, congenital ocular paralysis and developmental retardation. Cardiac anomalies and paralysis of the vocal chords may also be present. Six cases have been reported so far. Transmission is thought to be autosomal recessive. The allelic disorder of Bosley-Salih-Alorainy syndrome is characterised by Duane congenital strabism, profound sensorineural deafness, cardiovascular malformations, hypoventilation, delayed motor development and, in some patients, intellectual deficit or autism. It has been described in nine patients from five consanguineous families. The syndrome is transmitted in an autosomal recessive manner. To date a total of five point mutations have been described in the HOXA1 gene. Interestingly, a large duplication encompassing the HOXA1 gene and 38 additional genes is reported to cause tetralogy of Fallot.
