ORPHA:60040
Megalencephaly-capillary malformation-polymicrogyria syndrome
Synonyms: MCAP · MCM · MCMTC · Macrocephaly-capillary malformation syndrome · Macrocephaly-cutis marmorata telangiectatica congenita syndrome · Megalencephaly-capillary malformation syndrome · Megalencephaly-cutis marmorata telangiectatica congenita syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare developmental defect during embryogenesis that is characterized by growth dysregulation with overgrowth of the brain and multiple somatic tissues, with capillary skin malformations, megalencephaly (MEG) or hemimegalencephaly (HMEG), cortical brain abnormalities (in particular polymicrogyria), typical facial dysmorphisms, abnormalities of somatic growth with asymmetry of the body and brain, developmental delay and digital anomalies.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Megalencephaly-capillary malformation-polymicrogyria syndrome | MCAP · MCM · MCMTC · Macrocephaly-capillary malformation syndrome · Macrocephaly-cutis marmorata telangiectatica congenita syndrome · Megalencephaly-capillary malformation syndrome · Megalencephaly-cutis marmorata telangiectatica congenita syndrome |
| fr | Syndrome mégalencéphalie-malformation capillaire-polymicrogyrie | MCAP · MCM · MCMTC · Syndrome de macrocéphalie-cutis marmorata telangiectatica congenita · Syndrome de mégalencéphalie-cutis marmorata telangiectatica congenita · Syndrome macrocéphalie-malformation capillaire · Syndrome mégalencéphalie-malformation capillaire |
| de | Megalenzephalie-Kapillarfehlbildungen-Polymikrogyrie-Syndrom | MCM · MCMTC · Makrozephalie - Cutis Marmorata Telangiectatica Congenita · Makrozephalie-kapilläre Fehlbildung-Syndrom · Megalenzephalie - Cutis Marmorata Telangiectatica Congenita · Megalenzephalie-Kapillarfehlbildung-Syndrom |
| es | Síndrome de megalencefalia-malformación capilar-polimicrogiria | MCAP · MCM · MCMTC · Macrocefalia-cutis marmorata telangiectásica congénita · Megalencefalia-cutis marmorata telangiectásica congénita · Síndrome de macrocefalia-malformación capilar · Síndrome de megalencefalia-malformación capilar |
| it | Sindrome megalencefalia-malformazione capillare-polimicrogiria | MCAP · MCM · MCMTC · Macrocefalia - cutis marmorata telangectasica congenita · Megalencefalia - cutis marmorata telangectasica congenita · Sindrome macrocefalia-malformazione capillare · Sindrome megalencefalia-malformazione capillare |
| nl | Megalencefalie - capillaire malformatie - polymicrogyrie-syndroom | MCAP · MCM · MCMTC · Macrocefalie - capillaire malformatie-syndroom · Macrocefalie - cutis marmorata telangiectatica congenita-syndroom · Megalencefalie - capillaire malformatie-syndroom · Megalencefalie - cutis marmorata telangiectatica congenita-syndroom |
| pt | Macrocefalia - cutis marmorata telangiectásica congénita | M-CMTC · Megalencefalia - cutis marmorata telangiectásica congénita |
| pl | Zespół mózg olbrzymi-malformacje kapilarne-polimikrogyria | Makrocefalia - skóra marmurkowata telangiektazja wrodzona · MCAP · MCM · MCMTC · Mózg olbrzymi - - skóra marmurkowata telangiektazja wrodzona · Zespół makrocefalia - malformacje kapilarne · Zespół wielkogłowie - malformacje kapilarne |
| cs | Syndrom zahrnující megalencefalii, kapilární malformaci a polymikrogyrii | MCAP · MCM · M-CMTC · Syndrom zahrnující makrocefalii a kapilární malformaci · Syndrom zahrnující makrocefalii a cutis marmorata telangiectatica congenita · Syndrom zahrnující megalencefalii a kapilární malformaci · Syndrom zahrnující megalencefalii a cutis marmorata telangiectatica congenita |
| uk | Синдром мегаленцефалії-капілярної мальформації-полімікрогірії | Синдром макроцефалії-капілярної мальформації · Синдром вродженої макроцефалії - cutis marmorata telangiectatica congenita · MCAP · MCM · MCMTC · Синдром мегаленцефалічно-капілярної мальформації · Синдром вродженої мегаленцефалії - cutis marmorata telangiectatica |
| zh | 巨脑-毛细血管畸形-多小脑回综合征 | 巨脑-先天性毛细血管扩张性大理石样皮肤综合征 |
| tr | Megalensefali-kapiller malformasyon-polimikroji sendromu | MCM · MCAP · MCMTC · Makrosefali-kapiller malformasyon sendromu · Megalensefali-kapiller malformasyon sendromu · Macrocephaly-kutis marmorata telenjiektika konjenita sendromu · Megalensefali-kutis marmorata telenjiektika konjenita sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 602501 | E | validated | |
| ICD-10 | Q87.3 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | attributed | validated |
| MONDO | 0011240 | E | validated | |
| MeSH | C536142 | E | validated | |
| UMLS | C1865285 | E | validated | |
| GARD | 6950 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (9):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:183478Genetic skin vascular disorder
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:530313PIK3CA-related overgrowth spectrum disorder
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:728584PIK3CA-related overgrowth spectrum disorder with vascular malformation
rare developmental anomalies during embryogenesis; rare circulatory system diseases - ORPHA:183422Polymalformative genetic syndrome with increased risk of developing cancer
rare genetic diseases; rare neoplastic diseases - ORPHA:458830Rare capillary malformation with associated anomalies
rare genetic diseases - ORPHA:715453Reticulated capillary malformation
rare developmental anomalies during embryogenesis; rare circulatory system diseases - ORPHA:79379Skin vascular disease
rare skin diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PIK3CA | Disease-causing somatic mutation(s) in | Assessed | HGNC:8975 | ENSG00000121879 | 171834 | 3q26.32 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | 22729224[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 170 cases | Worldwide | Case(s) | Validated | 15712320[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
35 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100026 | Arteriovenous malformation | |
| HP:0100555 | Asymmetric growth | |
| HP:0000324 | Facial asymmetry | |
| HP:0006101 | Finger syndactyly | |
| HP:0001829 | Foot polydactyly | |
| HP:0001161 | Hand polydactyly | |
| HP:0000256 | Macrocephaly | |
| HP:0001052 | Nevus flammeus | |
| HP:0100585 | Telangiectasia of the skin | |
| HP:0001770 | Toe syndactyly | |
| HP:0100761 | Visceral angiomatosis | |
| HP:0000154 | Wide mouth | |
| Frequent (79-30%) | ||
| HP:0012639 | Abnormal nervous system morphology | |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | |
| HP:0000965 | Cutis marmorata | |
| HP:0001508 | Failure to thrive | |
| HP:0002007 | Frontal bossing | |
| HP:0000293 | Full cheeks | |
| HP:0001263 | Global developmental delay | |
| HP:0000348 | High forehead | |
| HP:0000238 | Hydrocephalus | |
| HP:0001034 | Hypermelanotic macule | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0001382 | Joint hypermobility | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0011675 | Arrhythmia | |
| HP:0002637 | Cerebral ischemia | |
| HP:0002308 | Chiari malformation | |
| HP:0000490 | Deeply set eye | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0002664 | Neoplasm | |
| HP:0000648 | Optic atrophy | |
| HP:0002126 | Polymicrogyria | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/60040
- This record as JSON: /data/d/60040.json