MCID: CRN048
MIFTS: 30

Craniofacial-Deafness-Hand Syndrome

Categories: Genetic diseases, Rare diseases, Ear diseases, Fetal diseases, Smell/Taste diseases

Aliases & Classifications for Craniofacial-Deafness-Hand Syndrome

MalaCards integrated aliases for Craniofacial-Deafness-Hand Syndrome:

Name: Craniofacial-Deafness-Hand Syndrome 54 24 25 56 71 13 52
Cdhs 50 25 56 71
Craniofacial Deafness Hand Syndrome 50 29 69
Sommer-Young-Wee-Frye Syndrome 50 56
Features of Flat Facial Profile, Hypertelorism, Hypoplastic Nose with Slitlike Nares, and a Sensorineural Hearing Loss 50

Characteristics:

Orphanet epidemiological data:

56
craniofacial-deafness-hand syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
craniofacial-deafness-hand syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 122880
Orphanet 56 ORPHA1529
MESH via Orphanet 43 C536453
UMLS via Orphanet 70 C1852510
ICD10 via Orphanet 34 Q87.0
MedGen 40 C1852510

Summaries for Craniofacial-Deafness-Hand Syndrome

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 1529disease definitioncraniofacial-deafness-hand syndrome (cdhs) is an autosomal dominant disorder, described in one family to date, characterized by characteristic facial features (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ''pursed'' mouth), profound sensorineural deafness, and ulnar deviations and contractures of the hand. cdhs is thought to be an allelic variant of waardenburg syndrome (see this term) that can be distinguished from the latter by its imaging findings and distinct facial features.visit the orphanet disease page for more resources. last updated: 2/11/2015

MalaCards based summary : Craniofacial-Deafness-Hand Syndrome, also known as cdhs, is related to congenital diaphragmatic hernia and diaphragmatic hernia 3, and has symptoms including depressed nasal bridge, hypertelorism and short nose. An important gene associated with Craniofacial-Deafness-Hand Syndrome is PAX3 (Paired Box 3). Affiliated tissues include bone.

Genetics Home Reference : 25 Craniofacial-deafness-hand syndrome is characterized by distinctive facial features, profound hearing loss, and hand abnormalities.

UniProtKB/Swiss-Prot : 71 Craniofacial-deafness-hand syndrome: Thought to be an autosomal dominant disease which comprises absence or hypoplasia of the nasal bones, hypoplastic maxilla, small and short nose with thin nares, limited movement of the wrist, short palpebral fissures, ulnar deviation of the fingers, hypertelorism and profound sensory-neural deafness.

Description from OMIM: 122880

Related Diseases for Craniofacial-Deafness-Hand Syndrome

Diseases related to Craniofacial-Deafness-Hand Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
id Related Disease Score Top Affiliating Genes
1 congenital diaphragmatic hernia 11.9
2 diaphragmatic hernia 3 10.9
3 developmental dysplasia of the hip 1 10.9
4 thrombosis 9.9
5 papilledema 9.9
6 cerebritis 9.9
7 intracranial hypertension 9.9
8 fryns syndrome 9.7
9 pulmonary hypertension 9.7
10 esophageal atresia 9.7
11 esophagitis 9.7
12 tyrosinemia 9.5 KIR2DS4 PAX3
13 spondyloarthropathy 3 9.2 KIR2DS4 PAX3

Graphical network of the top 20 diseases related to Craniofacial-Deafness-Hand Syndrome:



Diseases related to Craniofacial-Deafness-Hand Syndrome

Symptoms & Phenotypes for Craniofacial-Deafness-Hand Syndrome

Symptoms via clinical synopsis from OMIM:

54

Facies:
hypertelorism
flat facial profile

Nose:
hypoplastic nose
slitlike nares

Limbs:
ulnar deviation of hands

Ears:
sensorineural hearing loss

Radiology:
small maxilla
absent or small nasal bones


Clinical features from OMIM:

122880

Human phenotypes related to Craniofacial-Deafness-Hand Syndrome:

56 32 (show all 19)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 depressed nasal bridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0005280
2 hypertelorism 56 32 hallmark (90%) Very frequent (99-80%) HP:0000316
3 short nose 56 32 hallmark (90%) Very frequent (99-80%) HP:0003196
4 narrow face 56 32 hallmark (90%) Very frequent (99-80%) HP:0000275
5 downslanted palpebral fissures 56 32 hallmark (90%) Very frequent (99-80%) HP:0000494
6 flat face 56 32 hallmark (90%) Very frequent (99-80%) HP:0012368
7 blepharophimosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000581
8 sensorineural hearing impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0000407
9 ulnar deviation of the wrist 56 32 hallmark (90%) Very frequent (99-80%) HP:0003049
10 lacrimal duct atresia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000564
11 depressed nasal ridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0000457
12 narrow mouth 56 32 hallmark (90%) Very frequent (99-80%) HP:0000160
13 hypoplasia of the maxilla 56 32 hallmark (90%) Very frequent (99-80%) HP:0000327
14 camptodactyly of finger 56 32 frequent (33%) Frequent (79-30%) HP:0100490
15 ulnar deviation of finger 56 32 hallmark (90%) Very frequent (99-80%) HP:0009465
16 aplasia/hypoplasia involving the nose 56 32 hallmark (90%) Very frequent (99-80%) HP:0009924
17 malar flattening 32 HP:0000272
18 abnormality of the wrist 56 Very frequent (99-80%)
19 ulnar deviation of the hand 32 HP:0009487

Drugs & Therapeutics for Craniofacial-Deafness-Hand Syndrome

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

Genetic Tests for Craniofacial-Deafness-Hand Syndrome

Genetic tests related to Craniofacial-Deafness-Hand Syndrome:

id Genetic test Affiliating Genes
1 Craniofacial Deafness Hand Syndrome 29
2 Craniofacial-Deafness-Hand Syndrome 24 PAX3

Anatomical Context for Craniofacial-Deafness-Hand Syndrome

MalaCards organs/tissues related to Craniofacial-Deafness-Hand Syndrome:

39
Bone

Publications for Craniofacial-Deafness-Hand Syndrome

Articles related to Craniofacial-Deafness-Hand Syndrome:

id Title Authors Year
1
Craniofacial-deafness-hand syndrome revisited. ( 14556253 )
2003
2
Missense mutation in the paired domain of PAX3 causes craniofacial- deafness-hand syndrome. ( 8664898 )
1996

Variations for Craniofacial-Deafness-Hand Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Craniofacial-Deafness-Hand Syndrome:

71
id Symbol AA change Variation ID SNP ID
1 PAX3 p.Asn47Lys VAR_003792 rs104893652

ClinVar genetic disease variations for Craniofacial-Deafness-Hand Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PAX3 NM_181457.3(PAX3): c.141C> G (p.Asn47Lys) single nucleotide variant Pathogenic rs104893652 GRCh37 Chromosome 2, 223161877: 223161877

Expression for Craniofacial-Deafness-Hand Syndrome

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

Pathways for Craniofacial-Deafness-Hand Syndrome

GO Terms for Craniofacial-Deafness-Hand Syndrome

Sources for Craniofacial-Deafness-Hand 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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