Macrocephaly-short stature-paraplegia syndrome
historical
Synonyms: Volcke-Soekarman syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Adult
- Status
- historical
A rare, syndromic intellectual disability characterized by macrocephaly, short stature, intellectual disability, variable degree of spastic paraplegia, central nervous system malformations (hydrocephalus, Dandy-Walker malformation), and dysmorphic features, such as high and broad forehead, midface hypoplasia, and small and broad hands and feet. There have been no further descriptions in the literature since 1993.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Macrocephaly-short stature-paraplegia syndrome | Volcke-Soekarman syndrome |
| fr | Syndrome de macrocéphalie-petite taille-paraplégie | Syndrome de Volcke-Soekarman |
| de | Makrozephalie-Kleinwuchs-Paraplegie-Syndrom | Volcke-Soekarman-Syndrom |
| es | Síndrome de macrocefalia-talla baja-paraplejía | Macrocefalia-talla baja-paraplejía · Síndrome de Volcke-Soekarman |
| it | Sindrome macrocefalia-bassa statura-paraplegia | Sindrome di Volcke-Soekarman |
| nl | Macrocefalie - kleine gestalte - paraplegie-syndroom | Syndroom van Volcke-Soekarman |
| pt | Síndrome de macrocefalia-baixa estatura-paraplegia | Síndrome Volcke-Soekarman |
| pl | Makrocefalia- niski wzrost - paraplegia | Zespół Volcke i Soekarmana |
| cs | Syndrom zahrnující makrocefalii, malý vzrůst a paraplegii | Volckeho-Soekarmanův syndrom · Volcke-Soekarmanův syndrom |
| uk | Синдром макроцефалії-низькорослості-параплегії | Синдром Фольке-Соекармана |
| zh | 大头畸形-身材矮小-截瘫综合征 | Volcke-Soekarman 综合征 |
| tr | Makrosefali kısa boy parapleji sendromu | Volcke-Soekarman sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| MONDO | 0016571 | E | validated | |
| MeSH | C537718 | E | validated | |
| UMLS | C2931595 | E | validated | |
| GARD | 172 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:269546Syndrome with a Dandy-Walker malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 8471221[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8471221[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2427
- This record as JSON: /data/d/2427.json