BMKS
MCID: BRN062
MIFTS: 35

Burn-Mckeown Syndrome (BMKS)

Categories: Ear diseases, Eye diseases, Genetic diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Burn-Mckeown Syndrome

MalaCards integrated aliases for Burn-Mckeown Syndrome:

Name: Burn-Mckeown Syndrome 57 24 25 74 37 29 6 40 72
Oculootofacial Dysplasia 57 25 74 72
Bmks 57 24 25 74
Oofd 57 25 74
Bilateral Choanal Atresia, Cardiac Defects, Deafness, and Dysmorphic Appearance 25
Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial Dysmorphism Syndrome 25
Oculootofacial Dysplasia; Oofd 57
Oculo-Oto-Facial Dysplasia 25

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
burn-mckeown syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 608572
KEGG 37 H01839
MedGen 42 C1837822
UMLS 72 C1835913 C1837822

Summaries for Burn-Mckeown Syndrome

Genetics Home Reference : 25 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-hearing loss-cardiac defects-craniofacial dysmorphism syndrome and choanal atresia, posterior. An important gene associated with Burn-Mckeown Syndrome is TXNL4A (Thioredoxin Like 4A), and among its related pathways/superpathways is Spliceosome. The drugs Nifurtimox and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include heart, eye and skin, and related phenotypes are hypertelorism and mandibular prognathia

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)

KEGG : 37
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 : 74 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.

GeneReviews: NBK373577

Related Diseases for Burn-Mckeown Syndrome

Graphical network of the top 20 diseases related to Burn-Mckeown Syndrome:



Diseases related to Burn-Mckeown Syndrome

Symptoms & Phenotypes for Burn-Mckeown Syndrome

Human phenotypes related to Burn-Mckeown Syndrome:

32 (showing 26, show less)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 mandibular prognathia 32 HP:0000303
3 feeding difficulties in infancy 32 HP:0008872
4 abnormality of metabolism/homeostasis 32 HP:0001939
5 cleft palate 32 HP:0000175
6 micrognathia 32 HP:0000347
7 short philtrum 32 HP:0000322
8 hypomimic face 32 HP:0000338
9 protruding ear 32 HP:0000411
10 narrow mouth 32 HP:0000160
11 atrial septal defect 32 HP:0001631
12 prominent nasal bridge 32 HP:0000426
13 underdeveloped nasal alae 32 HP:0000430
14 cleft upper lip 32 HP:0000204
15 preauricular skin tag 32 HP:0000384
16 conductive hearing impairment 32 HP:0000405
17 renal hypoplasia 32 HP:0000089
18 ventricular septal defect 32 HP:0001629
19 blepharophimosis 32 HP:0000581
20 thin vermilion border 32 HP:0000233
21 bifid uvula 32 HP:0000193
22 lower eyelid coloboma 32 HP:0000652
23 short palpebral fissure 32 HP:0012745
24 2-3 toe syndactyly 32 HP:0004691
25 bilateral choanal atresia 32 HP:0004502
26 bilateral choanal atresia/stenosis 32 HP:0200138

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
lower eyelid coloboma
short palpebral fissures

Head And Neck Face:
micrognathia
short philtrum
hypomimic face
prominent chin

Head And Neck Nose:
prominent nasal bridge
choanal atresia or choanal stenosis, bilateral

Head And Neck Ears:
conductive hearing loss
hypoplastic alae nasi
prominent ears
preauricular tag

Neurologic Central Nervous System:
normal development

Laboratory Abnormalities:
abnormal karyotype in single reported female patient 46, xx,r(18)(p14q23)

Head And Neck Mouth:
cleft palate
bifid uvula
cleft lip
small mouth
thin lips
more
Cardiovascular Heart:
atrial septal defect
ventricular septal defect

Skeletal Feet:
2-3 toe syndactyly

Abdomen Gastrointestinal:
feeding problems

Genitourinary Kidneys:
hypoplastic/dysplastic kidney

Clinical features from OMIM:

608572

Drugs & Therapeutics for Burn-Mckeown Syndrome

Drugs for Burn-Mckeown Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 7, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Nifurtimox Investigational Phase 2 23256-30-6
2 Anti-Infective Agents Phase 2
3 Immunologic Factors Phase 2
4 Antiparasitic Agents Phase 2
5 Immunosuppressive Agents Phase 2
6 Antiprotozoal Agents Phase 2
7 Benzonidazole Phase 2

Interventional clinical trials:

(showing 1, show less)
# Name Status NCT ID Phase Drugs
1 New Chemotherapy Regimens and Biomarkers for Chagas Disease Not yet recruiting NCT03981523 Phase 2 Benznidazole;Nifurtimox

Search NIH Clinical Center for Burn-Mckeown Syndrome

Genetic Tests for Burn-Mckeown Syndrome

Genetic tests related to Burn-Mckeown Syndrome:

# Genetic test Affiliating Genes
1 Burn-Mckeown Syndrome 29 TXNL4A

Anatomical Context for Burn-Mckeown Syndrome

MalaCards organs/tissues related to Burn-Mckeown Syndrome:

41
Heart, Eye, Skin, Kidney

Publications for Burn-Mckeown Syndrome

Articles related to Burn-Mckeown Syndrome:

(showing 16, show less)
# Title Authors PMID Year
1
Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome. 38 4 8 71
25434003 2014
2
A novel oculo-oto-facial dysplasia in a Native Alaskan community with autosomal recessive inheritance. 4 8 71
16523509 2006
3
Two brothers with Burn-McKeown syndrome. 38 8 71
14564154 2003
4
New dysmorphic syndrome with choanal atresia in siblings. 8 71
1342861 1992
5
Burn-McKeown Syndrome 38 71
27413799 2016
6
Oculo-oto-facial dysplasia (OOFD) versus Burn-McKeown syndrome. 38 8
17022072 2006
7
RE: Correspondence from Wieczorek & Gillessen-Kaesbach and Hing & Parisi. 8
17022074 2006
8
The Dim protein family: from structure to splicing. 4
17558560 2007
9
The network of protein-protein interactions within the human U4/U6.U5 tri-snRNP. 4
16723661 2006
10
Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia. 38
28905882 2017
11
Severe intellectual disability in a patient with Burn-McKeown syndrome. 38
28225383 2017
12
Biomarkers for Allergen Immunotherapy: A "Panoromic" View. 38
26617233 2016
13
A review of craniofacial disorders caused by spliceosomal defects. 38
25865758 2015
14
[Toxicological significance of biological markers]. 38
15584434 2004
15
BAX and BAK mediate p53-independent suppression of tumorigenesis. 38
12242152 2002
16
A boy with choanal atresia and cardiac defect: Burn-McKeown syndrome? 38
10319205 1999

Variations for Burn-Mckeown Syndrome

ClinVar genetic disease variations for Burn-Mckeown Syndrome:

6 (showing 14, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TXNL4A NM_001305563.2(TXNL4A): c.-60-10913_-60-10880del deletion Pathogenic rs535089924 18:77748581-77748614 18:79988581-79988614
2 TXNL4A NM_001305563.2(TXNL4A): c.136G> T (p.Glu46Ter) single nucleotide variant Pathogenic rs727502793 18:77733765-77733765 18:79973765-79973765
3 TXNL4A NM_001305563.2(TXNL4A): c.-60-10655C> T single nucleotide variant Pathogenic rs727502794 18:77748356-77748356 18:79988356-79988356
4 TXNL4A NM_001305563.2(TXNL4A): c.-60-10561del deletion Pathogenic rs727502795 18:77748262-77748262 18:79988262-79988262
5 TXNL4A NM_006701.4(TXNL4A): c.258_429del172 (p.Asn87Alafs) deletion Pathogenic 18:77733685-77737597 18:79973685-79977597
6 TXNL4A NM_001305563.1(TXNL4A): c.-60-10914_-60-10880del deletion Pathogenic 18:77748581-77748636 18:79988581-79988636
7 TXNL4A NC_000018.9(TXNL4A): g.77748604_77748637del34 deletion Pathogenic rs786205699 18:77748604-77748637 18:79988604-79988637
8 covers 17 genes, none of which curated to show dosage sensitivity NC_000018.9: g.73376178_78077248del4701071 deletion Pathogenic 18:73376178-78077248 :0-0
9 TXNL4A NC_000018.9: g.76841645_78077248del1235604 deletion Pathogenic 18:76841645-78077248 :0-0
10 TXNL4A NC_000018.9: g.76854774_78077248del1222475 deletion Pathogenic 18:76854774-78077248 :0-0
11 TXNL4A NM_001305563.2(TXNL4A): c.-60-959_44+638del deletion Pathogenic 18:77736960-77738660 18:79976960-79978660
12 TXNL4A NM_001305563.2(TXNL4A): c.-60-10536A> G single nucleotide variant Pathogenic rs879255559 18:77748237-77748237 18:79988237-79988237
13 TXNL4A NM_006701.2: c.Exon 3 deletion deletion Pathogenic
14 TXNL4A GRCh37/hg19 18q23(chr18: 77421290-77904990)x1 copy number loss Pathogenic 18:77421290-77904990 :0-0

Expression for Burn-Mckeown Syndrome

Search GEO for disease gene expression data for Burn-Mckeown Syndrome.

Pathways for Burn-Mckeown Syndrome

Pathways related to Burn-Mckeown Syndrome according to KEGG:

37 (showing 1, show less)
# Name Kegg Source Accession
1 Spliceosome hsa03040

GO Terms for Burn-Mckeown Syndrome

Sources for Burn-Mckeown Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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