CDHS
MCID: CRN048
MIFTS: 29

Craniofacial-Deafness-Hand Syndrome (CDHS)

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

Aliases & Classifications for Craniofacial-Deafness-Hand Syndrome

MalaCards integrated aliases for Craniofacial-Deafness-Hand Syndrome:

Name: Craniofacial-Deafness-Hand Syndrome 58 26 60 76 38 13 56
Craniofacial Deafness Hand Syndrome 54 30 6 41 74
Cdhs 58 54 26 60 76
Sommer-Young-Wee-Frye Syndrome 54 60
Features of Flat Facial Profile, Hypertelorism, Hypoplastic Nose with Slitlike Nares, and a Sensorineural Hearing Loss 54

Characteristics:

Orphanet epidemiological data:

60
craniofacial-deafness-hand syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
craniofacial-deafness-hand syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 122880
KEGG 38 H00446
MESH via Orphanet 46 C536453
ICD10 via Orphanet 35 Q87.0
UMLS via Orphanet 75 C1852510
Orphanet 60 ORPHA1529
MedGen 43 C1852510
UMLS 74 C1852510

Summaries for Craniofacial-Deafness-Hand Syndrome

NIH Rare Diseases : 54 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 hypertelorism and depressed nasal bridge

Genetics Home Reference : 26 Craniofacial-deafness-hand syndrome is characterized by distinctive facial features, profound hearing loss, and hand abnormalities.

UniProtKB/Swiss-Prot : 76 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

Human phenotypes related to Craniofacial-Deafness-Hand Syndrome:

60 33 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000316
2 depressed nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0005280
3 short nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0003196
4 sensorineural hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000407
5 flat face 60 33 hallmark (90%) Very frequent (99-80%) HP:0012368
6 depressed nasal ridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000457
7 hypoplasia of the maxilla 60 33 hallmark (90%) Very frequent (99-80%) HP:0000327
8 narrow face 60 33 hallmark (90%) Very frequent (99-80%) HP:0000275
9 downslanted palpebral fissures 60 33 hallmark (90%) Very frequent (99-80%) HP:0000494
10 narrow mouth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000160
11 blepharophimosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000581
12 ulnar deviation of finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0009465
13 aplasia/hypoplasia involving the nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0009924
14 ulnar deviation of the wrist 60 33 hallmark (90%) Very frequent (99-80%) HP:0003049
15 lacrimal duct atresia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000564
16 camptodactyly of finger 60 33 frequent (33%) Frequent (79-30%) HP:0100490
17 malar flattening 33 HP:0000272
18 abnormality of the wrist 60 Very frequent (99-80%)
19 ulnar deviation of the hand or of fingers of the hand 33 HP:0001193
20 ulnar deviation of the hand 33 HP:0009487

Symptoms via clinical synopsis from OMIM:

58
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

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 30 PAX3

Anatomical Context for Craniofacial-Deafness-Hand Syndrome

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

42
Bone

Publications for Craniofacial-Deafness-Hand Syndrome

Articles related to Craniofacial-Deafness-Hand Syndrome:

# Title Authors Year
1
Core-shell PLGA/collagen nanofibers loaded with recombinant FN/CDHs as bone tissue engineering scaffolds. ( 24844413 )
2014
2
Craniofacial-deafness-hand syndrome revisited. ( 14556253 )
2003
3
Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome. ( 8664898 )
1996
4
Previously undescribed syndrome of craniofacial, hand anomalies, and sensorineural deafness. ( 6859126 )
1983

Variations for Craniofacial-Deafness-Hand Syndrome

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

76
# 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 56)
# 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.1174-10G> C single nucleotide variant Benign/Likely benign rs2855268 GRCh38 Chromosome 2, 222202200: 222202200
6 PAX3 NM_181457.3(PAX3): c.1174-10G> C single nucleotide variant Benign/Likely benign rs2855268 GRCh37 Chromosome 2, 223066919: 223066919
7 PAX3 NM_181457.3(PAX3): c.1003C> T (p.Pro335Ser) single nucleotide variant Benign/Likely benign rs151199924 GRCh38 Chromosome 2, 222220310: 222220310
8 PAX3 NM_181457.3(PAX3): c.1003C> T (p.Pro335Ser) single nucleotide variant Benign/Likely benign rs151199924 GRCh37 Chromosome 2, 223085029: 223085029
9 PAX3 NM_181457.3(PAX3): c.879G> T (p.Gly293=) single nucleotide variant Benign/Likely benign rs45522331 GRCh37 Chromosome 2, 223086020: 223086020
10 PAX3 NM_181457.3(PAX3): c.879G> T (p.Gly293=) single nucleotide variant Benign/Likely benign rs45522331 GRCh38 Chromosome 2, 222221301: 222221301
11 PAX3 NM_181457.3(PAX3): c.873C> T (p.Pro291=) single nucleotide variant Benign/Likely benign rs141545923 GRCh38 Chromosome 2, 222221307: 222221307
12 PAX3 NM_181457.3(PAX3): c.873C> T (p.Pro291=) single nucleotide variant Benign/Likely benign rs141545923 GRCh37 Chromosome 2, 223086026: 223086026
13 PAX3 NM_181457.3(PAX3): c.321+10C> A single nucleotide variant Benign/Likely benign rs140960868 GRCh37 Chromosome 2, 223161687: 223161687
14 PAX3 NM_181457.3(PAX3): c.321+10C> A single nucleotide variant Benign/Likely benign rs140960868 GRCh38 Chromosome 2, 222296968: 222296968
15 PAX3 NM_181457.3(PAX3): c.156C> G (p.Pro52=) single nucleotide variant Benign/Likely benign rs28945092 GRCh37 Chromosome 2, 223161862: 223161862
16 PAX3 NM_181457.3(PAX3): c.156C> G (p.Pro52=) single nucleotide variant Benign/Likely benign rs28945092 GRCh38 Chromosome 2, 222297143: 222297143
17 PAX3 NM_181457.3(PAX3): c.*106dupT duplication Uncertain significance rs368725878 GRCh38 Chromosome 2, 222201818: 222201818
18 PAX3 NM_181457.3(PAX3): c.*106dupT duplication Uncertain significance rs368725878 GRCh37 Chromosome 2, 223066537: 223066537
19 PAX3 NM_181457.3(PAX3): c.*35C> T single nucleotide variant Likely benign rs186207055 GRCh38 Chromosome 2, 222201889: 222201889
20 PAX3 NM_181457.3(PAX3): c.*35C> T single nucleotide variant Likely benign rs186207055 GRCh37 Chromosome 2, 223066608: 223066608
21 PAX3 NM_181457.3(PAX3): c.*181C> T single nucleotide variant Uncertain significance rs573451372 GRCh38 Chromosome 2, 222201743: 222201743
22 PAX3 NM_181457.3(PAX3): c.*181C> T single nucleotide variant Uncertain significance rs573451372 GRCh37 Chromosome 2, 223066462: 223066462
23 PAX3 NM_181457.3(PAX3): c.*105T> G single nucleotide variant Uncertain significance rs886055674 GRCh38 Chromosome 2, 222201819: 222201819
24 PAX3 NM_181457.3(PAX3): c.*105T> G single nucleotide variant Uncertain significance rs886055674 GRCh37 Chromosome 2, 223066538: 223066538
25 PAX3 NM_181457.3(PAX3): c.1229A> T (p.Tyr410Phe) single nucleotide variant Uncertain significance rs886055675 GRCh38 Chromosome 2, 222202135: 222202135
26 PAX3 NM_181457.3(PAX3): c.1229A> T (p.Tyr410Phe) single nucleotide variant Uncertain significance rs886055675 GRCh37 Chromosome 2, 223066854: 223066854
27 PAX3 NM_181457.3(PAX3): c.1204G> A (p.Val402Ile) single nucleotide variant Uncertain significance rs374318137 GRCh38 Chromosome 2, 222202160: 222202160
28 PAX3 NM_181457.3(PAX3): c.1204G> A (p.Val402Ile) single nucleotide variant Uncertain significance rs374318137 GRCh37 Chromosome 2, 223066879: 223066879
29 PAX3 NM_181457.3(PAX3): c.47C> T (p.Pro16Leu) single nucleotide variant Uncertain significance rs886055676 GRCh38 Chromosome 2, 222298569: 222298569
30 PAX3 NM_181457.3(PAX3): c.47C> T (p.Pro16Leu) single nucleotide variant Uncertain significance rs886055676 GRCh37 Chromosome 2, 223163288: 223163288
31 PAX3 NM_181457.3(PAX3): c.540C> G (p.Ser180Arg) single nucleotide variant Uncertain significance rs200679164 GRCh38 Chromosome 2, 222294213: 222294213
32 PAX3 NM_181457.3(PAX3): c.540C> G (p.Ser180Arg) single nucleotide variant Uncertain significance rs200679164 GRCh37 Chromosome 2, 223158932: 223158932
33 PAX3 NM_181457.3(PAX3): c.580G> A (p.Glu194Lys) single nucleotide variant Uncertain significance rs148454691 GRCh37 Chromosome 2, 223158892: 223158892
34 PAX3 NM_181457.3(PAX3): c.580G> A (p.Glu194Lys) single nucleotide variant Uncertain significance rs148454691 GRCh38 Chromosome 2, 222294173: 222294173
35 PAX3 NM_181457.3(PAX3): c.126C> A (p.Gly42=) single nucleotide variant Benign/Likely benign rs369680052 GRCh37 Chromosome 2, 223161892: 223161892
36 PAX3 NM_181457.3(PAX3): c.126C> A (p.Gly42=) single nucleotide variant Benign/Likely benign rs369680052 GRCh38 Chromosome 2, 222297173: 222297173
37 PAX3 NM_181457.3(PAX3): c.*200C> T single nucleotide variant Likely benign rs45624434 GRCh37 Chromosome 2, 223066443: 223066443
38 PAX3 NM_181457.3(PAX3): c.*200C> T single nucleotide variant Likely benign rs45624434 GRCh38 Chromosome 2, 222201724: 222201724
39 PAX3 NM_181457.3(PAX3): c.-248A> C single nucleotide variant Uncertain significance rs886055677 GRCh37 Chromosome 2, 223163582: 223163582
40 PAX3 NM_181457.3(PAX3): c.-248A> C single nucleotide variant Uncertain significance rs886055677 GRCh38 Chromosome 2, 222298863: 222298863
41 PAX3 NM_181457.3(PAX3): c.-156C> A single nucleotide variant Uncertain significance rs867534042 GRCh37 Chromosome 2, 223163490: 223163490
42 PAX3 NM_181457.3(PAX3): c.-156C> A single nucleotide variant Uncertain significance rs867534042 GRCh38 Chromosome 2, 222298771: 222298771
43 PAX3 NM_181457.3(PAX3): c.-156C> T single nucleotide variant Uncertain significance rs867534042 GRCh37 Chromosome 2, 223163490: 223163490
44 PAX3 NM_181457.3(PAX3): c.-156C> T single nucleotide variant Uncertain significance rs867534042 GRCh38 Chromosome 2, 222298771: 222298771
45 PAX3 NM_181457.3(PAX3): c.*84G> A single nucleotide variant Likely benign rs142988099 GRCh37 Chromosome 2, 223066559: 223066559
46 PAX3 NM_181457.3(PAX3): c.*84G> A single nucleotide variant Likely benign rs142988099 GRCh38 Chromosome 2, 222201840: 222201840
47 PAX3 NM_181457.3(PAX3): c.944C> A (p.Thr315Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs2234675 GRCh38 Chromosome 2, 222221236: 222221236
48 PAX3 NM_181457.3(PAX3): c.944C> A (p.Thr315Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs2234675 GRCh37 Chromosome 2, 223085955: 223085955
49 PAX3 NM_181457.3(PAX3): c.-359G> T single nucleotide variant Likely benign rs45501095 GRCh37 Chromosome 2, 223163693: 223163693
50 PAX3 NM_181457.3(PAX3): c.-359G> T single nucleotide variant Likely benign rs45501095 GRCh38 Chromosome 2, 222298974: 222298974

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

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