Families

Burn-McKeown syndrome is an extremely rare inherited condition. Less than thirty individuals have been described to have this condition, but this is likely to be a significant under-estimate. The condition is caused when a child inherits a variant in the TXNL4A gene from each parent (this is called autosomal recessive inheritance). Affected individuals have a blockage or narrowing at the back of the nose called choanal atresia or stenosis which will require an operation. Some affected children can have a characteristic facial appearance, hearing loss and heart problems.