MCID: DFN311
MIFTS: 15

Deafness-Craniofacial Syndrome

Categories: Ear diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Deafness-Craniofacial Syndrome

MalaCards integrated aliases for Deafness-Craniofacial Syndrome:

Name: Deafness-Craniofacial Syndrome 58 60 74
Deafness Craniofacial Syndrome 54

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
deafness-craniofacial syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 125230
ICD10 via Orphanet 35 Q87.0
UMLS via Orphanet 75 C1852278
Orphanet 60 ORPHA3241
MedGen 43 C1852278
UMLS 74 C1852278

Summaries for Deafness-Craniofacial Syndrome

MalaCards based summary : Deafness-Craniofacial Syndrome, is also known as deafness craniofacial syndrome. Affiliated tissues include tongue and eye, and related phenotypes are frontal bossing and wide nasal bridge

Description from OMIM: 125230

Related Diseases for Deafness-Craniofacial Syndrome

Symptoms & Phenotypes for Deafness-Craniofacial Syndrome

Human phenotypes related to Deafness-Craniofacial Syndrome:

60 33 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 60 33 hallmark (90%) Very frequent (99-80%) HP:0002007
2 wide nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000431
3 sensorineural hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000407
4 underdeveloped nasal alae 60 33 hallmark (90%) Very frequent (99-80%) HP:0000430
5 abnormal palate morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0000174
6 facial asymmetry 60 33 hallmark (90%) Very frequent (99-80%) HP:0000324
7 bifid tongue 60 33 hallmark (90%) Very frequent (99-80%) HP:0010297
8 short lingual frenulum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000200
9 temporal hypotrichosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0004524
10 abnormality of the dentition 60 33 frequent (33%) Frequent (79-30%) HP:0000164
11 patent ductus arteriosus 60 33 frequent (33%) Frequent (79-30%) HP:0001643
12 short philtrum 60 33 frequent (33%) Frequent (79-30%) HP:0000322
13 deeply set eye 60 33 frequent (33%) Frequent (79-30%) HP:0000490
14 upslanted palpebral fissure 60 33 frequent (33%) Frequent (79-30%) HP:0000582
15 hearing impairment 33 HP:0000365
16 alopecia 33 HP:0001596

Symptoms via clinical synopsis from OMIM:

58
Facies:
frontal bossing
facial asymmetry
temporal alopecia

Ears:
congenital hearing loss

Nose:
broad nasal root
small nasal alae

Mouth:
short tongue frenulum

Clinical features from OMIM:

125230

Drugs & Therapeutics for Deafness-Craniofacial Syndrome

Search Clinical Trials , NIH Clinical Center for Deafness-Craniofacial Syndrome

Genetic Tests for Deafness-Craniofacial Syndrome

Anatomical Context for Deafness-Craniofacial Syndrome

MalaCards organs/tissues related to Deafness-Craniofacial Syndrome:

42
Tongue, Eye

Publications for Deafness-Craniofacial Syndrome

Variations for Deafness-Craniofacial Syndrome

Expression for Deafness-Craniofacial Syndrome

Search GEO for disease gene expression data for Deafness-Craniofacial Syndrome.

Pathways for Deafness-Craniofacial Syndrome

GO Terms for Deafness-Craniofacial Syndrome

Sources for Deafness-Craniofacial Syndrome

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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