MCID: BRN062
MIFTS: 25

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 54 23 25 71 29 69
Oculootofacial Dysplasia 25 71 69
Bmks 23 25 71
Oofd 25 71
Bilateral Choanal Atresia, Cardiac Defects, Deafness, and Dysmorphic Appearance 25
Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial Dysmorphism Syndrome 25
Oculo-Oto-Facial Dysplasia 25

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
burn-mckeown syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Burn-Mckeown Syndrome

OMIM : 54
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 micrognathia, hypertelorism and choanal atresia. An important gene associated with Burn-Mckeown Syndrome is TXNL4A (Thioredoxin Like 4A). Affiliated tissues include heart, kidney and skin.

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.

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:

id Related Disease Score Top Affiliating Genes
1 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome 11.7
2 burns 10.4
3 intellectual disability 10.0

Symptoms & Phenotypes for Burn-Mckeown Syndrome

Symptoms via clinical synopsis from OMIM:

54

Abdomen- Gastroin testinal:
feeding problems

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

Cardiovascular- Heart:
atrial septal defect
ventricular septal defect

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

Neurologic- Central Nervous System:
normal development

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

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

Head And Neck- Mouth:
small mouth
cleft palate
cleft lip
bifid uvula
thin lips
more
Head And Neck- Ears:
preauricular tag
conductive hearing loss
prominent ears
hypoplastic alae nasi

Skeletal- Feet:
2-3 toe syndactyly

Genitourinary- Kidneys:
hypoplastic/dysplastic kidney


Clinical features from OMIM:

608572

Human phenotypes related to Burn-Mckeown Syndrome:

32 (show all 26)
id Description HPO Frequency HPO Source Accession
1 micrognathia 32 HP:0000347
2 hypertelorism 32 HP:0000316
3 choanal atresia 32 HP:0000453
4 cleft palate 32 HP:0000175
5 atrial septal defect 32 HP:0001631
6 short philtrum 32 HP:0000322
7 bifid uvula 32 HP:0000193
8 ventricular septal defect 32 HP:0001629
9 thin vermilion border 32 HP:0000233
10 renal hypoplasia 32 HP:0000089
11 blepharophimosis 32 HP:0000581
12 feeding difficulties in infancy 32 HP:0008872
13 prominent nasal bridge 32 HP:0000426
14 preauricular skin tag 32 HP:0000384
15 2-3 toe syndactyly 32 HP:0004691
16 lower eyelid coloboma 32 HP:0000652
17 short palpebral fissure 32 HP:0012745
18 narrow mouth 32 HP:0000160
19 hypomimic face 32 HP:0000338
20 mandibular prognathia 32 HP:0000303
21 abnormality of metabolism/homeostasis 32 HP:0001939
22 protruding ear 32 HP:0000411
23 underdeveloped nasal alae 32 HP:0000430
24 conductive hearing impairment 32 HP:0000405
25 cleft upper lip 32 HP:0000204
26 bilateral choanal atresia/stenosis 32 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:

id Genetic test Affiliating Genes
1 Burn-Mckeown Syndrome 29

Anatomical Context for Burn-Mckeown Syndrome

MalaCards organs/tissues related to Burn-Mckeown Syndrome:

39
Heart, Kidney, Skin

Publications for Burn-Mckeown Syndrome

Articles related to Burn-Mckeown Syndrome:

id Title Authors Year
1
Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia. ( 28905882 )
2017
2
Severe intellectual disability in a patient with Burn-McKeown syndrome. ( 28225383 )
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)
id 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 TXNL4A NM_001305563.1(TXNL4A): c.-60-959_44+638del deletion Pathogenic GRCh38 Chromosome 18, 79976960: 79978660
9 TXNL4A NM_006701.4(TXNL4A): c.153+3A> G single nucleotide variant Pathogenic rs879255559 GRCh37 Chromosome 18, 77748237: 77748237
10 TXNL4A NM_006701.2: c.Exon 3 deletion deletion Pathogenic
11 covers 17 genes, none of which curated to show dosage sensitivity NC_000018.9: g.73376178_78077248del4701071 copy number loss Pathogenic GRCh37 Chromosome 18, 73376178: 78077248
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

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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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