MCID: DFN300
MIFTS: 15

Deafness-Genital Anomalies-Metacarpal and Metatarsal Synostosis Syndrome

Categories: Ear diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Deafness-Genital Anomalies-Metacarpal and Metatarsal Synostosis...

MalaCards integrated aliases for Deafness-Genital Anomalies-Metacarpal and Metatarsal Synostosis Syndrome:

Name: Deafness-Genital Anomalies-Metacarpal and Metatarsal Synostosis Syndrome 58
Pfeiffer Kapferer Syndrome 71
Pfeiffer-Kapferer Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


Summaries for Deafness-Genital Anomalies-Metacarpal and Metatarsal Synostosis...

MalaCards based summary : Deafness-Genital Anomalies-Metacarpal and Metatarsal Synostosis Syndrome, also known as pfeiffer kapferer syndrome, is related to pfeiffer kapferer syndrome. Affiliated tissues include bone, and related phenotypes are low-set ears and intellectual disability

Related Diseases for Deafness-Genital Anomalies-Metacarpal and Metatarsal Synostosis...

Diseases related to Deafness-Genital Anomalies-Metacarpal and Metatarsal Synostosis Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pfeiffer kapferer syndrome 12.6

Symptoms & Phenotypes for Deafness-Genital Anomalies-Metacarpal and Metatarsal Synostosis...

Human phenotypes related to Deafness-Genital Anomalies-Metacarpal and Metatarsal Synostosis Syndrome:

58 31 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
2 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
3 cerebral cortical atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0002120
4 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
5 prominent forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0011220
6 protruding ear 58 31 hallmark (90%) Very frequent (99-80%) HP:0000411
7 abnormal nasal morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005105
8 abnormal dermatoglyphics 58 31 hallmark (90%) Very frequent (99-80%) HP:0007477
9 pes cavus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001761
10 ventriculomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002119
11 cerebellar hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001321
12 hypospadias 58 31 hallmark (90%) Very frequent (99-80%) HP:0000047
13 posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000358
14 abnormality of the metacarpal bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0001163
15 facial asymmetry 58 31 hallmark (90%) Very frequent (99-80%) HP:0000324
16 abnormality of the cerebellar vermis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002334
17 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
18 finger syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0006101
19 neurological speech impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002167
20 abnormality of the dentition 58 31 frequent (33%) Frequent (79-30%) HP:0000164
21 abnormal vertebral morphology 58 31 frequent (33%) Frequent (79-30%) HP:0003468
22 alopecia 58 31 frequent (33%) Frequent (79-30%) HP:0001596
23 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
24 short hallux 58 31 frequent (33%) Frequent (79-30%) HP:0010109
25 toe syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001770
26 truncal obesity 58 31 frequent (33%) Frequent (79-30%) HP:0001956
27 supernumerary nipple 58 31 frequent (33%) Frequent (79-30%) HP:0002558
28 abnormal corpus callosum morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001273

Drugs & Therapeutics for Deafness-Genital Anomalies-Metacarpal and Metatarsal Synostosis...

Search Clinical Trials , NIH Clinical Center for Deafness-Genital Anomalies-Metacarpal and Metatarsal Synostosis Syndrome

Genetic Tests for Deafness-Genital Anomalies-Metacarpal and Metatarsal Synostosis...

Anatomical Context for Deafness-Genital Anomalies-Metacarpal and Metatarsal Synostosis...

MalaCards organs/tissues related to Deafness-Genital Anomalies-Metacarpal and Metatarsal Synostosis Syndrome:

40
Bone

Publications for Deafness-Genital Anomalies-Metacarpal and Metatarsal Synostosis...

Variations for Deafness-Genital Anomalies-Metacarpal and Metatarsal Synostosis...

Expression for Deafness-Genital Anomalies-Metacarpal and Metatarsal Synostosis...

Search GEO for disease gene expression data for Deafness-Genital Anomalies-Metacarpal and Metatarsal Synostosis Syndrome.

Pathways for Deafness-Genital Anomalies-Metacarpal and Metatarsal Synostosis...

GO Terms for Deafness-Genital Anomalies-Metacarpal and Metatarsal Synostosis...

Sources for Deafness-Genital Anomalies-Metacarpal and Metatarsal Synostosis...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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