MCID: MCR294
MIFTS: 8

Macrocephaly-Short Stature-Paraplegia Syndrome

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Macrocephaly-Short Stature-Paraplegia Syndrome

MalaCards integrated aliases for Macrocephaly-Short Stature-Paraplegia Syndrome:

Name: Macrocephaly-Short Stature-Paraplegia Syndrome 52 58
Volcke Soekarman Syndrome 52 71
Volcke-Soekarman Syndrome 52 58

Characteristics:

Orphanet epidemiological data:

58
macrocephaly-short stature-paraplegia syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

UMLS via Orphanet 72 C2931595
Orphanet 58 ORPHA2427
UMLS 71 C2931595

Summaries for Macrocephaly-Short Stature-Paraplegia 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: 2427 Definition Macrocephaly-short stature -paraplegia syndrome is characterized by macrocephaly and midface hypoplasia, intellectual deficit, short stature, spastic paraplegia and severe central nervous system anomalies (hydrocephalus and Dandy-Walker malformation). It has been described in two unrelated adults. Visit the Orphanet disease page for more resources.

MalaCards based summary : Macrocephaly-Short Stature-Paraplegia Syndrome, is also known as volcke soekarman syndrome.

Related Diseases for Macrocephaly-Short Stature-Paraplegia Syndrome

Symptoms & Phenotypes for Macrocephaly-Short Stature-Paraplegia Syndrome

Drugs & Therapeutics for Macrocephaly-Short Stature-Paraplegia Syndrome

Search Clinical Trials , NIH Clinical Center for Macrocephaly-Short Stature-Paraplegia Syndrome

Genetic Tests for Macrocephaly-Short Stature-Paraplegia Syndrome

Anatomical Context for Macrocephaly-Short Stature-Paraplegia Syndrome

Publications for Macrocephaly-Short Stature-Paraplegia Syndrome

Variations for Macrocephaly-Short Stature-Paraplegia Syndrome

Expression for Macrocephaly-Short Stature-Paraplegia Syndrome

Search GEO for disease gene expression data for Macrocephaly-Short Stature-Paraplegia Syndrome.

Pathways for Macrocephaly-Short Stature-Paraplegia Syndrome

GO Terms for Macrocephaly-Short Stature-Paraplegia Syndrome

Sources for Macrocephaly-Short Stature-Paraplegia 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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