MedlinePlus Genetics :
43
Burn-McKeown syndrome is a disorder that is present from birth (congenital) and involves abnormalities of the nasal passages, characteristic facial features, hearing loss, heart abnormalities, and short stature.In people with Burn-McKeown syndrome, both nasal passages are usually narrowed (bilateral choanal stenosis) or completely blocked (bilateral choanal atresia), which can cause life-threatening breathing problems in infancy without surgical repair. Typical facial features include narrow openings of the eyelids (short palpebral fissures); a gap (coloboma) in the lower eyelids; widely spaced eyes (hypertelorism); a prominent bridge of the nose; a short space between the nose and the upper lip (philtrum); a small opening of the mouth (microstomia); and large, protruding ears.Some people with Burn-McKeown syndrome have congenital hearing loss in both ears which varies in severity among affected individuals. The hearing loss is described as mixed, which means that it is caused by both changes in the inner ear (sensorineural hearing loss) and changes in the middle ear (conductive hearing loss).Other features that can occur in Burn-McKeown syndrome include mild short stature and congenital heart defects such as patent ductus arteriosus (PDA). The ductus arteriosus is a connection between two major arteries, the aorta and the pulmonary artery. This connection is open during fetal development and normally closes shortly after birth. However, the ductus arteriosus remains open, or patent, in babies with PDA. If untreated, this heart defect causes infants to breathe rapidly, feed poorly, and gain weight slowly; in severe cases, it can lead to heart failure. Intelligence is unaffected in Burn-McKeown syndrome.
MalaCards based summary :
Burn-Mckeown Syndrome, also known as
oculootofacial dysplasia, is related to
choanal atresia, posterior and
postaxial acrofacial dysostosis. An important gene associated with Burn-Mckeown Syndrome is
TXNL4A (Thioredoxin Like 4A), and among its related pathways/superpathways are
Spliceosome and
Gene Expression. Affiliated tissues include
heart,
eye and
kidney, and related phenotypes are
hypertelorism and
short palpebral fissure
Disease Ontology :
12
A syndrome that is characterized by bilateral choanal atresia, cranio-facial dysmorphism, \nhearing loss, heart abnormalities, and short stature.
GARD :
20
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1200 Definition Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia (see this term) associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid (see this term) with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome (see this term).
OMIM® :
57
Burn-McKeown syndrome is a rare condition in which individuals with normal intellectual development exhibit the characteristic combination of choanal atresia, sensorineural deafness, cardiac defects, and typical craniofacial dysmorphism consisting of narrow palpebral fissures, coloboma of the lower eyelids, prominent nose with high nasal bridge, short philtrum, cleft lip and/or palate, and large and protruding ears (summary by Wieczorek et al., 2014).
(608572) (Updated 05-Apr-2021)
KEGG :
36
Burn-McKeown syndrome (BMKS) is a rare autosomal-recessive malformative craniofacial disorder characterized by choanal atresia, sensorineural deafness, cardiac defects, and typical craniofacial dysmorphisms, consisting of narrow palpebral fissures, coloboma of the lower eyelids, a prominent nose with high nasal bridge, short philtrum, cleft lip and/or palate, and large and protruding ears. All patients have normal intellectual development; Treacher Collins syndrome [DS:H00610] is therefore a possible differential diagnosis. Mutations in TXNL4A, encoding a protein of the major spliceosome, have been identified as the cause of BMKS.
UniProtKB/Swiss-Prot :
72
Burn-McKeown syndrome: A disease characterized by choanal atresia, sensorineural deafness, cardiac defects, and typical craniofacial dysmorphism consisting of narrow palpebral fissures, coloboma of the lower eyelids, prominent nose with high nasal bridge, short philtrum, cleft lip and/or palate, and large and protruding ears. Intellectual development is normal.
Rare otorhinolaryngological diseases 
