Macrocephaly - short stature - paraplegia

General Information (adopted from Orphanet):

Synonyms, Signs: Volcke-Soekarman syndrome
Number of Symptoms 15
OrphanetNr: 2427
OMIM Id:
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: Unknown
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Syndrome with a Dandy-Walker malformation as major feature
 -Rare developmental defect during embryogenesis
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0009804) Reduced number of teeth Very frequent [Orphanet] 137 / 7739
2
 (HPO:0000348) High forehead Very frequent [Orphanet] 157 / 7739
3
 (HPO:0011800) Midface retrusion Very frequent [Orphanet] 221 / 7739
4
 (HPO:0001305) Dandy-Walker malformation Very frequent [Orphanet] 79 / 7739
5
 (HPO:0000337) Broad forehead Very frequent [Orphanet] 116 / 7739
6
 (HPO:0000256) Macrocephaly Very frequent [Orphanet] 298 / 7739
7
 (HPO:0000508) Ptosis Very frequent [Orphanet] 459 / 7739
8
 (HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
9
 (HPO:0004374) Hemiplegia/hemiparesis Very frequent [Orphanet] 158 / 7739
10
 (HPO:0004209) Clinodactyly of the 5th finger Very frequent [Orphanet] 288 / 7739
11
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
12
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
13
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
14
 (HPO:0002334) Abnormality of the cerebellar vermis Very frequent [Orphanet] 137 / 7739
15
 (HPO:0000238) Hydrocephalus Very frequent [Orphanet] 278 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: