MCID: CRN048
MIFTS: 29

Craniofacial-Deafness-Hand Syndrome

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

Aliases & Classifications for Craniofacial-Deafness-Hand Syndrome

MalaCards integrated aliases for Craniofacial-Deafness-Hand Syndrome:

Name: Craniofacial-Deafness-Hand Syndrome 53 24 55 71 36 13 51
Cdhs 53 49 24 55 71
Craniofacial Deafness Hand Syndrome 49 28 69
Sommer-Young-Wee-Frye Syndrome 49 55
Features of Flat Facial Profile, Hypertelorism, Hypoplastic Nose with Slitlike Nares, and a Sensorineural Hearing Loss 49

Characteristics:

Orphanet epidemiological data:

55
craniofacial-deafness-hand syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
craniofacial-deafness-hand syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 122880
Orphanet 55 ORPHA1529
MESH via Orphanet 42 C536453
UMLS via Orphanet 70 C1852510
ICD10 via Orphanet 33 Q87.0
MedGen 39 C1852510
KEGG 36 H00446
UMLS 69 C1852510

Summaries for Craniofacial-Deafness-Hand Syndrome

NIH Rare Diseases : 49 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 diaphragmatic hernia, congenital and developmental dysplasia of the hip 1, and has symptoms including ulnar deviation of the wrist, hypertelorism and depressed nasal bridge. An important gene associated with Craniofacial-Deafness-Hand Syndrome is PAX3 (Paired Box 3). Affiliated tissues include bone.

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.

Genetics Home Reference : 24 Craniofacial-deafness-hand syndrome is characterized by distinctive facial features, profound hearing loss, and hand abnormalities.

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:

53
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:

55 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ulnar deviation of the wrist 55 31 hallmark (90%) Very frequent (99-80%) HP:0003049
2 hypertelorism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000316
3 depressed nasal bridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0005280
4 short nose 55 31 hallmark (90%) Very frequent (99-80%) HP:0003196
5 sensorineural hearing impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000407
6 flat face 55 31 hallmark (90%) Very frequent (99-80%) HP:0012368
7 depressed nasal ridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0000457
8 hypoplasia of the maxilla 55 31 hallmark (90%) Very frequent (99-80%) HP:0000327
9 narrow face 55 31 hallmark (90%) Very frequent (99-80%) HP:0000275
10 downslanted palpebral fissures 55 31 hallmark (90%) Very frequent (99-80%) HP:0000494
11 narrow mouth 55 31 hallmark (90%) Very frequent (99-80%) HP:0000160
12 blepharophimosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000581
13 camptodactyly of finger 55 31 frequent (33%) Frequent (79-30%) HP:0100490
14 ulnar deviation of finger 55 31 hallmark (90%) Very frequent (99-80%) HP:0009465
15 aplasia/hypoplasia involving the nose 55 31 hallmark (90%) Very frequent (99-80%) HP:0009924
16 lacrimal duct atresia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000564
17 malar flattening 31 HP:0000272
18 abnormality of the wrist 55 Very frequent (99-80%)
19 ulnar deviation of the hand 31 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 28 PAX3

Anatomical Context for Craniofacial-Deafness-Hand Syndrome

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

38
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:

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

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

6
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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