Burn-McKeown Syndrome is a rare disorder with characteristic facial features due to mutations in TXNL4A.
Chromosome: 18q23
Gene: TXNL4A (thioredoxin-like protein 4A)
Inheritance: autosomal recessive
Facial findings:
(1) bilateral choanal atresia/stenosis
(2) short palpebral fissures
(3) coloboma of the lower eyelids
(4) prominent nasal bridge
(5) widely spaced eyes
(6) short philtrum
(7) short vermilion of the upper lip
(8) prominent ears
(9) reduced mouth opening
Other clinical findings:
(1) hearing loss
(2) variable cardiac defects
(3) variable short stature
(4) normal clinical intellect
