MCID: CHN069
MIFTS: 15

Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial Dysmorphism Syndrome

Categories: Ear diseases, Rare diseases

Aliases & Classifications for Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial...

MalaCards integrated aliases for Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial Dysmorphism Syndrome:

Name: Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial Dysmorphism Syndrome 54
Burn-Mckeown Syndrome 54 74
Bilateral Choanal Atresia, Cardiac Defects, Deafness, and Dysmorphic Appearance 54
Choanal Atresia Deafness Cardiac Defects Dysmorphism 54

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Ear diseases


Summaries for Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial...

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1200Disease definitionChoanal 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).Visit the Orphanet disease page for more resources.

MalaCards based summary : Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial Dysmorphism Syndrome, also known as burn-mckeown syndrome, is related to burn-mckeown syndrome and choanal atresia, posterior. Affiliated tissues include kidney, and related phenotypes are hypertelorism and short palpebral fissure

Related Diseases for Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial...

Diseases related to Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial Dysmorphism Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 burn-mckeown syndrome 11.9
2 choanal atresia, posterior 10.4
3 burns 10.4
4 alacrima, achalasia, and mental retardation syndrome 10.2

Symptoms & Phenotypes for Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial...

Human phenotypes related to Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial Dysmorphism Syndrome:

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 33 hallmark (90%) HP:0000316
2 short palpebral fissure 33 hallmark (90%) HP:0012745
3 bilateral choanal atresia 33 hallmark (90%) HP:0004502
4 prominent nasal bridge 33 frequent (33%) HP:0000426
5 abnormal cardiac septum morphology 33 frequent (33%) HP:0001671
6 wide nasal bridge 33 occasional (7.5%) HP:0000431
7 short nose 33 occasional (7.5%) HP:0003196
8 short stature 33 occasional (7.5%) HP:0004322
9 abnormality of vision 33 occasional (7.5%) HP:0000504
10 abnormal palate morphology 33 occasional (7.5%) HP:0000174

Drugs & Therapeutics for Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial...

Search Clinical Trials , NIH Clinical Center for Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial Dysmorphism Syndrome

Genetic Tests for Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial...

Anatomical Context for Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial...

MalaCards organs/tissues related to Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial Dysmorphism Syndrome:

42
Kidney

Publications for Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial...

Articles related to Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial Dysmorphism 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

Variations for Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial...

Expression for Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial...

Search GEO for disease gene expression data for Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial Dysmorphism Syndrome.

Pathways for Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial...

GO Terms for Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial...

Sources for Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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