CDHS
MCID: CRN048
MIFTS: 29

Craniofacial-Deafness-Hand Syndrome (CDHS)

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 57 25 59 75 37 13 55
Craniofacial Deafness Hand Syndrome 53 29 6 40 73
Cdhs 57 53 25 59 75
Sommer-Young-Wee-Frye Syndrome 53 59
Features of Flat Facial Profile, Hypertelorism, Hypoplastic Nose with Slitlike Nares, and a Sensorineural Hearing Loss 53

Characteristics:

Orphanet epidemiological data:

59
craniofacial-deafness-hand syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

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


Classifications:



External Ids:

OMIM 57 122880
Orphanet 59 ORPHA1529
MESH via Orphanet 45 C536453
UMLS via Orphanet 74 C1852510
ICD10 via Orphanet 34 Q87.0
MedGen 42 C1852510
KEGG 37 H00446
UMLS 73 C1852510

Summaries for Craniofacial-Deafness-Hand Syndrome

NIH Rare Diseases : 53 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.

MalaCards based summary : Craniofacial-Deafness-Hand Syndrome, also known as craniofacial deafness hand syndrome, is related to diaphragmatic hernia, congenital and developmental dysplasia of the hip 1. An important gene associated with Craniofacial-Deafness-Hand Syndrome is PAX3 (Paired Box 3). Affiliated tissues include bone, and related phenotypes are narrow mouth and narrow face

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

UniProtKB/Swiss-Prot : 75 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

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:

57
Facies:
hypertelorism
flat facial profile

Nose:
hypoplastic nose
slitlike nares

Radiology:
small maxilla
absent or small nasal bones

Ears:
sensorineural hearing loss

Limbs:
ulnar deviation of hands


Clinical features from OMIM:

122880

Human phenotypes related to Craniofacial-Deafness-Hand Syndrome:

59 32 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 narrow mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000160
2 narrow face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000275
3 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
4 hypoplasia of the maxilla 59 32 hallmark (90%) Very frequent (99-80%) HP:0000327
5 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
6 depressed nasal ridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000457
7 downslanted palpebral fissures 59 32 hallmark (90%) Very frequent (99-80%) HP:0000494
8 lacrimal duct atresia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000564
9 blepharophimosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000581
10 ulnar deviation of the wrist 59 32 hallmark (90%) Very frequent (99-80%) HP:0003049
11 short nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0003196
12 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
13 ulnar deviation of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0009465
14 aplasia/hypoplasia involving the nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0009924
15 flat face 59 32 hallmark (90%) Very frequent (99-80%) HP:0012368
16 camptodactyly of finger 59 32 frequent (33%) Frequent (79-30%) HP:0100490
17 abnormality of the wrist 59 Very frequent (99-80%)
18 malar flattening 32 HP:0000272
19 ulnar deviation of the hand or of fingers of the hand 32 HP:0001193
20 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:

# Genetic test Affiliating Genes
1 Craniofacial Deafness Hand Syndrome 29 PAX3

Anatomical Context for Craniofacial-Deafness-Hand Syndrome

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

41
Bone

Publications for Craniofacial-Deafness-Hand Syndrome

Articles related to Craniofacial-Deafness-Hand Syndrome:

# 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:

75
# Symbol AA change Variation ID SNP ID
1 PAX3 p.Asn47Lys VAR_003792 rs104893652

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

6
(show top 50) (show all 52)
# 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
2 PAX3 NM_181457.3(PAX3): c.141C> G (p.Asn47Lys) single nucleotide variant Pathogenic rs104893652 GRCh38 Chromosome 2, 222297158: 222297158
3 PAX3 NM_181457.3(PAX3): c.129T> C (p.Gly43=) single nucleotide variant Benign rs12623857 GRCh37 Chromosome 2, 223161889: 223161889
4 PAX3 NM_181457.3(PAX3): c.129T> C (p.Gly43=) single nucleotide variant Benign rs12623857 GRCh38 Chromosome 2, 222297170: 222297170
5 PAX3 NM_181457.3(PAX3): c.944C> A (p.Thr315Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs2234675 GRCh37 Chromosome 2, 223085955: 223085955
6 PAX3 NM_181457.3(PAX3): c.944C> A (p.Thr315Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs2234675 GRCh38 Chromosome 2, 222221236: 222221236
7 PAX3 NM_181457.3(PAX3): c.1174-10G> C single nucleotide variant Benign/Likely benign rs2855268 GRCh38 Chromosome 2, 222202200: 222202200
8 PAX3 NM_181457.3(PAX3): c.1174-10G> C single nucleotide variant Benign/Likely benign rs2855268 GRCh37 Chromosome 2, 223066919: 223066919
9 PAX3 NM_181457.3(PAX3): c.1003C> T (p.Pro335Ser) single nucleotide variant Benign/Likely benign rs151199924 GRCh38 Chromosome 2, 222220310: 222220310
10 PAX3 NM_181457.3(PAX3): c.1003C> T (p.Pro335Ser) single nucleotide variant Benign/Likely benign rs151199924 GRCh37 Chromosome 2, 223085029: 223085029
11 PAX3 NM_181457.3(PAX3): c.879G> T (p.Gly293=) single nucleotide variant Benign/Likely benign rs45522331 GRCh37 Chromosome 2, 223086020: 223086020
12 PAX3 NM_181457.3(PAX3): c.879G> T (p.Gly293=) single nucleotide variant Benign/Likely benign rs45522331 GRCh38 Chromosome 2, 222221301: 222221301
13 PAX3 NM_181457.3(PAX3): c.873C> T (p.Pro291=) single nucleotide variant Benign/Likely benign rs141545923 GRCh38 Chromosome 2, 222221307: 222221307
14 PAX3 NM_181457.3(PAX3): c.873C> T (p.Pro291=) single nucleotide variant Benign/Likely benign rs141545923 GRCh37 Chromosome 2, 223086026: 223086026
15 PAX3 NM_181457.3(PAX3): c.321+10C> A single nucleotide variant Benign/Likely benign rs140960868 GRCh37 Chromosome 2, 223161687: 223161687
16 PAX3 NM_181457.3(PAX3): c.321+10C> A single nucleotide variant Benign/Likely benign rs140960868 GRCh38 Chromosome 2, 222296968: 222296968
17 PAX3 NM_181457.3(PAX3): c.156C> G (p.Pro52=) single nucleotide variant Benign/Likely benign rs28945092 GRCh37 Chromosome 2, 223161862: 223161862
18 PAX3 NM_181457.3(PAX3): c.156C> G (p.Pro52=) single nucleotide variant Benign/Likely benign rs28945092 GRCh38 Chromosome 2, 222297143: 222297143
19 PAX3 NM_181457.3(PAX3): c.*84G> A single nucleotide variant Likely benign rs142988099 GRCh38 Chromosome 2, 222201840: 222201840
20 PAX3 NM_181457.3(PAX3): c.*84G> A single nucleotide variant Likely benign rs142988099 GRCh37 Chromosome 2, 223066559: 223066559
21 PAX3 NM_181457.3(PAX3): c.-156C> T single nucleotide variant Uncertain significance rs867534042 GRCh38 Chromosome 2, 222298771: 222298771
22 PAX3 NM_181457.3(PAX3): c.-156C> T single nucleotide variant Uncertain significance rs867534042 GRCh37 Chromosome 2, 223163490: 223163490
23 PAX3 NM_181457.3(PAX3): c.-156C> A single nucleotide variant Uncertain significance rs867534042 GRCh38 Chromosome 2, 222298771: 222298771
24 PAX3 NM_181457.3(PAX3): c.-156C> A single nucleotide variant Uncertain significance rs867534042 GRCh37 Chromosome 2, 223163490: 223163490
25 PAX3 NM_181457.3(PAX3): c.-248A> C single nucleotide variant Uncertain significance rs886055677 GRCh38 Chromosome 2, 222298863: 222298863
26 PAX3 NM_181457.3(PAX3): c.-248A> C single nucleotide variant Uncertain significance rs886055677 GRCh37 Chromosome 2, 223163582: 223163582
27 PAX3 NM_181457.3(PAX3): c.*200C> T single nucleotide variant Likely benign rs45624434 GRCh38 Chromosome 2, 222201724: 222201724
28 PAX3 NM_181457.3(PAX3): c.*200C> T single nucleotide variant Likely benign rs45624434 GRCh37 Chromosome 2, 223066443: 223066443
29 PAX3 NM_181457.3(PAX3): c.126C> A (p.Gly42=) single nucleotide variant Benign/Likely benign rs369680052 GRCh38 Chromosome 2, 222297173: 222297173
30 PAX3 NM_181457.3(PAX3): c.126C> A (p.Gly42=) single nucleotide variant Benign/Likely benign rs369680052 GRCh37 Chromosome 2, 223161892: 223161892
31 PAX3 NM_181457.3(PAX3): c.*106dupT duplication Uncertain significance rs552778546 GRCh38 Chromosome 2, 222201818: 222201818
32 PAX3 NM_181457.3(PAX3): c.*106dupT duplication Uncertain significance rs552778546 GRCh37 Chromosome 2, 223066537: 223066537
33 PAX3 NM_181457.3(PAX3): c.*35C> T single nucleotide variant Likely benign rs186207055 GRCh38 Chromosome 2, 222201889: 222201889
34 PAX3 NM_181457.3(PAX3): c.*35C> T single nucleotide variant Likely benign rs186207055 GRCh37 Chromosome 2, 223066608: 223066608
35 PAX3 NM_181457.3(PAX3): c.1118C> T (p.Pro373Leu) single nucleotide variant Uncertain significance rs200701839 GRCh38 Chromosome 2, 222220195: 222220195
36 PAX3 NM_181457.3(PAX3): c.1118C> T (p.Pro373Leu) single nucleotide variant Uncertain significance rs200701839 GRCh37 Chromosome 2, 223084914: 223084914
37 PAX3 NM_181457.3(PAX3): c.807C> T (p.Asn269=) single nucleotide variant Benign/Likely benign rs45501393 GRCh38 Chromosome 2, 222221373: 222221373
38 PAX3 NM_181457.3(PAX3): c.807C> T (p.Asn269=) single nucleotide variant Benign/Likely benign rs45501393 GRCh37 Chromosome 2, 223086092: 223086092
39 PAX3 NM_181457.3(PAX3): c.-205C> T single nucleotide variant Likely benign rs565554258 GRCh38 Chromosome 2, 222298820: 222298820
40 PAX3 NM_181457.3(PAX3): c.-205C> T single nucleotide variant Likely benign rs565554258 GRCh37 Chromosome 2, 223163539: 223163539
41 PAX3 NM_181457.3(PAX3): c.-359G> T single nucleotide variant Likely benign rs45501095 GRCh38 Chromosome 2, 222298974: 222298974
42 PAX3 NM_181457.3(PAX3): c.-359G> T single nucleotide variant Likely benign rs45501095 GRCh37 Chromosome 2, 223163693: 223163693
43 PAX3 NM_181457.3(PAX3): c.*181C> T single nucleotide variant Uncertain significance rs573451372 GRCh38 Chromosome 2, 222201743: 222201743
44 PAX3 NM_181457.3(PAX3): c.*181C> T single nucleotide variant Uncertain significance rs573451372 GRCh37 Chromosome 2, 223066462: 223066462
45 PAX3 NM_181457.3(PAX3): c.*105T> G single nucleotide variant Uncertain significance rs886055674 GRCh38 Chromosome 2, 222201819: 222201819
46 PAX3 NM_181457.3(PAX3): c.*105T> G single nucleotide variant Uncertain significance rs886055674 GRCh37 Chromosome 2, 223066538: 223066538
47 PAX3 NM_181457.3(PAX3): c.1229A> T (p.Tyr410Phe) single nucleotide variant Uncertain significance rs886055675 GRCh37 Chromosome 2, 223066854: 223066854
48 PAX3 NM_181457.3(PAX3): c.1229A> T (p.Tyr410Phe) single nucleotide variant Uncertain significance rs886055675 GRCh38 Chromosome 2, 222202135: 222202135
49 PAX3 NM_181457.3(PAX3): c.1204G> A (p.Val402Ile) single nucleotide variant Uncertain significance rs374318137 GRCh38 Chromosome 2, 222202160: 222202160
50 PAX3 NM_181457.3(PAX3): c.1204G> A (p.Val402Ile) single nucleotide variant Uncertain significance rs374318137 GRCh37 Chromosome 2, 223066879: 223066879

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
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
Content
Loading form....