MCID: BRN062
MIFTS: 28

Burn-Mckeown Syndrome

Categories: Genetic diseases, Ear diseases

Aliases & Classifications for Burn-Mckeown Syndrome

MalaCards integrated aliases for Burn-Mckeown Syndrome:

Name: Burn-Mckeown Syndrome 53 23 24 71 36 28 69
Oculootofacial Dysplasia 53 24 71 69
Bmks 53 23 24 71
Oofd 53 24 71
Bilateral Choanal Atresia, Cardiac Defects, Deafness, and Dysmorphic Appearance 24
Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial Dysmorphism Syndrome 24
Oculootofacial Dysplasia; Oofd 53
Oculo-Oto-Facial Dysplasia 24

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
burn-mckeown syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Burn-Mckeown Syndrome

OMIM : 53 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)

MalaCards based summary : Burn-Mckeown Syndrome, also known as oculootofacial dysplasia, is related to choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome and burns, and has symptoms including hypertelorism, mandibular prognathia and feeding difficulties in infancy. An important gene associated with Burn-Mckeown Syndrome is TXNL4A (Thioredoxin Like 4A), and among its related pathways/superpathways is Spliceosome. Affiliated tissues include heart, skin and kidney.

Genetics Home Reference : 24 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.

UniProtKB/Swiss-Prot : 71 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

Diseases related to Burn-Mckeown Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome 12.1
2 burns 10.5
3 choanal atresia, posterior 10.2
4 alacrima, achalasia, and mental retardation syndrome 10.0

Symptoms & Phenotypes for Burn-Mckeown Syndrome

Symptoms via clinical synopsis from OMIM:

53
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 Gastroin testinal:
feeding problems

Genitourinary Kidneys:
hypoplastic/dysplastic kidney


Clinical features from OMIM:

608572

Human phenotypes related to Burn-Mckeown Syndrome:

31 (show all 26)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 31 HP:0000316
2 mandibular prognathia 31 HP:0000303
3 feeding difficulties in infancy 31 HP:0008872
4 abnormality of metabolism/homeostasis 31 HP:0001939
5 cleft palate 31 HP:0000175
6 micrognathia 31 HP:0000347
7 atrial septal defect 31 HP:0001631
8 protruding ear 31 HP:0000411
9 prominent nasal bridge 31 HP:0000426
10 underdeveloped nasal alae 31 HP:0000430
11 short philtrum 31 HP:0000322
12 narrow mouth 31 HP:0000160
13 conductive hearing impairment 31 HP:0000405
14 renal hypoplasia 31 HP:0000089
15 choanal atresia 31 HP:0000453
16 ventricular septal defect 31 HP:0001629
17 blepharophimosis 31 HP:0000581
18 thin vermilion border 31 HP:0000233
19 preauricular skin tag 31 HP:0000384
20 cleft upper lip 31 HP:0000204
21 bifid uvula 31 HP:0000193
22 lower eyelid coloboma 31 HP:0000652
23 short palpebral fissure 31 HP:0012745
24 2-3 toe syndactyly 31 HP:0004691
25 hypomimic face 31 HP:0000338
26 bilateral choanal atresia/stenosis 31 HP:0200138

Drugs & Therapeutics for Burn-Mckeown Syndrome

Search Clinical Trials , 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 28 TXNL4A

Anatomical Context for Burn-Mckeown Syndrome

MalaCards organs/tissues related to Burn-Mckeown Syndrome:

38
Heart, Skin, Kidney

Publications for Burn-Mckeown Syndrome

Articles related to Burn-Mckeown Syndrome:

# Title Authors Year
1
Severe intellectual disability in a patient with Burn-McKeown syndrome. ( 28225383 )
2017
2
Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia. ( 28905882 )
2017
3
Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome. ( 25434003 )
2014
4
Oculo-oto-facial dysplasia (OOFD) versus Burn-McKeown syndrome. ( 17022072 )
2006
5
Two brothers with Burn-McKeown syndrome. ( 14564154 )
2003
6
A boy with choanal atresia and cardiac defect: Burn-McKeown syndrome? ( 10319205 )
1999
7
Burn-McKeown Syndrome ( 27413799 )
1993

Variations for Burn-Mckeown Syndrome

ClinVar genetic disease variations for Burn-Mckeown Syndrome:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 TXNL4A NM_001305563.1(TXNL4A): c.-60-10913_-60-10880del34 deletion Pathogenic rs535089924 GRCh37 Chromosome 18, 77748581: 77748614
2 TXNL4A NM_006701.4(TXNL4A): c.349G> T (p.Glu117Ter) single nucleotide variant Pathogenic rs727502793 GRCh37 Chromosome 18, 77733765: 77733765
3 TXNL4A NM_006701.4(TXNL4A): c.37C> T (p.Gln13Ter) single nucleotide variant Pathogenic rs727502794 GRCh37 Chromosome 18, 77748356: 77748356
4 TXNL4A NM_006701.4(TXNL4A): c.131delT (p.Val44Alafs) deletion Pathogenic rs727502795 GRCh38 Chromosome 18, 79988262: 79988262
5 TXNL4A NM_006701.4(TXNL4A): c.258_429del172 (p.Asn87Alafs) deletion Pathogenic GRCh38 Chromosome 18, 79973685: 79977597
6 TXNL4A NM_001305563.1(TXNL4A): c.-60-10914_-60-10880del deletion Pathogenic GRCh37 Chromosome 18, 77748581: 77748636
7 TXNL4A NC_000018.9(TXNL4A): g.77748604_77748637del34 deletion Pathogenic rs786205699 GRCh38 Chromosome 18, 79988604: 79988637
8 covers 17 genes, none of which curated to show dosage sensitivity NC_000018.9: g.73376178_78077248del4701071 deletion Pathogenic GRCh37 Chromosome 18, 73376178: 78077248
9 TXNL4A NM_001305563.1(TXNL4A): c.-60-959_44+638del deletion Pathogenic GRCh38 Chromosome 18, 79976960: 79978660
10 TXNL4A NM_006701.4(TXNL4A): c.153+3A> G single nucleotide variant Pathogenic rs879255559 GRCh37 Chromosome 18, 77748237: 77748237
11 TXNL4A NM_006701.2: c.Exon 3 deletion deletion Pathogenic
12 TXNL4A NC_000018.9: g.76841645_78077248del1235604 copy number loss Pathogenic GRCh37 Chromosome 18, 76841645: 78077248
13 TXNL4A NC_000018.9: g.76854774_78077248del1222475 copy number loss Pathogenic GRCh37 Chromosome 18, 76854774: 78077248
14 TXNL4A GRCh37/hg19 18q23(chr18: 77421290-77904990)x1 copy number loss Pathogenic GRCh37 Chromosome 18, 77421290: 77904990

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:

36
# 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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