TXNL4A

Clinical Characteristics for Families

Individuals with Burn McKeown syndrome will have a blockage at the back of the nose called choanal atresia. This may become apparent when a baby is drinking milk and goes blue as they cannot get air through their nose. Some affected children have a characteristic facial appearance with a small skin tag in front of their ears, their ears can be large and their eyes a bit more widely spaced. Some children can have hearing loss. Heart problems, like a “hole in the heart” are present in some children. Nearly all children with this condition have been described to have normal intellect.