MCID: VLJ001
MIFTS: 16

Viljoen Kallis Voges Syndrome

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Neuronal diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Viljoen Kallis Voges Syndrome

MalaCards integrated aliases for Viljoen Kallis Voges Syndrome:

Name: Viljoen Kallis Voges Syndrome 52 71
Microcephaly, Short Stature, Brachydactyly Type D, Flattened Occiput, Low-Set Large Ears, Prominent Nose, Kyphoscoliosis and Intellectual Disability 52
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome 58
Microcephaly Brachydactyly Kyphoscoliosis 52
Viljoen-Kallis-Voges Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
microcephaly-brachydactyly-kyphoscoliosis syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 72 C2931177
Orphanet 58 ORPHA3433
UMLS 71 C2931177

Summaries for Viljoen Kallis Voges Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3433 Definition Microcephaly -brachydactyly -kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature , brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait . Visit the Orphanet disease page for more resources.

MalaCards based summary : Viljoen Kallis Voges Syndrome, is also known as microcephaly, short stature, brachydactyly type d, flattened occiput, low-set large ears, prominent nose, kyphoscoliosis and intellectual disability. Affiliated tissues include eye and bone, and related phenotypes are malar flattening and low-set ears

Related Diseases for Viljoen Kallis Voges Syndrome

Symptoms & Phenotypes for Viljoen Kallis Voges Syndrome

Human phenotypes related to Viljoen Kallis Voges Syndrome:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 58 31 hallmark (90%) Very frequent (99-80%) HP:0000272
2 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
3 macrotia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000400
4 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
5 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
6 decreased muscle mass 58 31 hallmark (90%) Very frequent (99-80%) HP:0003199
7 dolichocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000268
8 high, narrow palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0002705
9 kyphoscoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002751
10 flat occiput 58 31 hallmark (90%) Very frequent (99-80%) HP:0005469
11 shuffling gait 58 31 hallmark (90%) Very frequent (99-80%) HP:0002362
12 intellectual disability, profound 58 31 hallmark (90%) Very frequent (99-80%) HP:0002187
13 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
14 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
15 broad thumb 58 31 frequent (33%) Frequent (79-30%) HP:0011304
16 atlantoaxial abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0003413
17 broad hallux 58 31 frequent (33%) Frequent (79-30%) HP:0010055
18 hypermobility of interphalangeal joints 58 31 frequent (33%) Frequent (79-30%) HP:0005620
19 wide nasal ridge 58 31 frequent (33%) Frequent (79-30%) HP:0012811

Drugs & Therapeutics for Viljoen Kallis Voges Syndrome

Search Clinical Trials , NIH Clinical Center for Viljoen Kallis Voges Syndrome

Genetic Tests for Viljoen Kallis Voges Syndrome

Anatomical Context for Viljoen Kallis Voges Syndrome

MalaCards organs/tissues related to Viljoen Kallis Voges Syndrome:

40
Eye, Bone

Publications for Viljoen Kallis Voges Syndrome

Variations for Viljoen Kallis Voges Syndrome

Expression for Viljoen Kallis Voges Syndrome

Search GEO for disease gene expression data for Viljoen Kallis Voges Syndrome.

Pathways for Viljoen Kallis Voges Syndrome

GO Terms for Viljoen Kallis Voges Syndrome

Sources for Viljoen Kallis Voges Syndrome

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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