ORPHA:171703
Microcephaly-polymicrogyria-corpus callosum agenesis syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
Microcephaly-polymicrogyria-corpus callosum agenesis syndrome is a rare, genetic, central nervous system malformation syndrome characterized by marked prenatal-onset microcephaly, severe motor delay with hypotonia, bilateral polymicrogyria, corpus callosum agenesis, ventricular dilation, small cerebellum and early lethality.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microcephaly-polymicrogyria-corpus callosum agenesis syndrome | |
| fr | Syndrome de microcéphalie-polymicrogyrie-agénésie du corps calleux | |
| de | Microzephalie - Polymikrogyrie - Corpus callosum-Agenesie | |
| es | Síndrome de microcefalia-polimicrogiria-agenesia del cuerpo calloso | |
| it | Sindrome microcefalia, polimicrogiria e agenesia del corpo calloso | |
| nl | Microcefalie - polymicrogyrie - agenesie van corpus callosum-syndroom | |
| pt | Microcefalia - polimicrogiria - agenesia do corpo caloso | |
| pl | Małogłowie - wielozakrętowość - agnezja ciała modzelowatego | |
| cs | Syndrom zahrnující mikrocefalii, polymikrogyrii a agenezi corpus callosum | |
| uk | Синдром мікроцефалії-полімікрогірії-агенезії мозолистого тіла | |
| zh | 小头畸形-多小脑回畸形-胼胝体发育不全综合征 | |
| tr | Mikrosefali-polimikrogyria-korpus kallozum agenezisi sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q04.3 | NTBT | attributed | validated |
| MONDO | 0015745 | E | validated | |
| UMLS | C4750772 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:269573Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:199639Syndrome with corpus callosum agenesis/dysgenesis as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| EOMES | Disease-causing germline mutation(s) in | Assessed | HGNC:3372 | ENSG00000163508 | 604615 | 3p24.1 | eomesodermin | 17353897[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 17353897[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_17353897[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.
6
HPO phenotypes
7 annotations · validated 2019-09-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0002126 | Polymicrogyria | |
| HP:0011451 | Primary microcephaly | |
| HP:0002719 | Recurrent infections | |
| HP:0002098 | Respiratory distress | |
| HP:0002119 | Ventriculomegaly | |
Annotation source: 17353897[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/171703
- This record as JSON: /data/d/171703.json