MCID: DFN311
MIFTS: 17

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 57 59 73
Deafness Craniofacial Syndrome 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
deafness-craniofacial syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 125230
Orphanet 59 ORPHA3241
ICD10 via Orphanet 34 Q87.0
UMLS via Orphanet 74 C1852278
MedGen 42 C1852278
UMLS 73 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 abnormality of the dentition

Description from OMIM: 125230

Related Diseases for Deafness-Craniofacial Syndrome

Symptoms & Phenotypes for Deafness-Craniofacial Syndrome

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Deafness-Craniofacial Syndrome:

59 32 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002007
2 abnormality of the dentition 59 32 frequent (33%) Frequent (79-30%) HP:0000164
3 wide nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000431
4 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
5 patent ductus arteriosus 59 32 frequent (33%) Frequent (79-30%) HP:0001643
6 underdeveloped nasal alae 59 32 hallmark (90%) Very frequent (99-80%) HP:0000430
7 short philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000322
8 deeply set eye 59 32 frequent (33%) Frequent (79-30%) HP:0000490
9 upslanted palpebral fissure 59 32 frequent (33%) Frequent (79-30%) HP:0000582
10 facial asymmetry 59 32 hallmark (90%) Very frequent (99-80%) HP:0000324
11 bifid tongue 59 32 hallmark (90%) Very frequent (99-80%) HP:0010297
12 short lingual frenulum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000200
13 temporal hypotrichosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0004524
14 hearing impairment 32 HP:0000365
15 alopecia 32 HP:0001596
16 abnormality of the palate 59 Very frequent (99-80%)
17 abnormal palate morphology 32 hallmark (90%) HP:0000174

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:

41
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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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