Microcephaly-capillary malformation syndrome
Synonyms: MIC-CAP syndrome · MIC-CM syndrome · Microcephaly-cutaneous capillary malformation syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Microcephaly-capillary malformation syndrome is a rare, genetic vascular anomaly characterized by severe congenital microcephaly, poor somatic growth, diffuse multiple capillary malformations on the skin, intractable epilepsy, profound global developmental delay, spastic quadriparesis and hypoplastic distal phalanges.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microcephaly-capillary malformation syndrome | MIC-CAP syndrome · MIC-CM syndrome · Microcephaly-cutaneous capillary malformation syndrome |
| fr | Syndrome de microcéphalie-malformation capillaire | Syndrome MIC-CAP · Syndrome MIC-CM · Syndrome de microcéphalie-malformation capillaire cutanée |
| de | Mikrozephalie-kapilläre Fehlbildung-Syndrom | MIC-CAP-Syndrom |
| es | Síndrome de microcefalia-malformación capilar | Sindrome MIC-CAP · Síndrome MIC-CM · Síndrome de microcefalia-malformación capilar cutánea |
| it | Sindrome microcefalia e malformazioni capillari | Sindrome MIC-CAP · Sindrome MIC-CM · Sindrome microcefalia-malformazione capillare cutanea |
| nl | Microcefalie - capillaire malformatie-syndroom | MIC-CAP-syndroom · MIC-CM-syndroom · Microcefalie - cutane capillaire malformatie-syndroom |
| pt | Síndrome microcefalia - malformação capilar | Síndrome MIC-CM · Síndrome microcefalia - malformação capilar cutânea |
| pl | Zespół małogłowie-malformacje naczyń włosowatych | Zespół małogłowie-malformacje naczyń włosowatych w skórze · Zespół MIC-CAP · Zespół MIC-CM |
| cs | Syndrom zahrnující mikrocefalii a kapilární malformace | MIC-CAP syndrom · MIC-CM syndrom · Syndrom zahrnující mikrocefalii a malformace kožních kapilár |
| uk | Синдром мікроцефалії-капілярної мальформації | Синдром MIC-CAP · Синдром MIC-CM · Синдром мікроцефалії - шкірно-капілярної мальформації |
| zh | 小头畸形-毛细血管畸形综合征 | 小头畸形-皮肤毛细血管畸形综合征 |
| tr | Mikrosefali-kapiller malformasyon sendromu | MIC-CM sendromu · MIC-CAP sendromu · Mikrosefali-kutanöz kapiller malformasyon sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614261 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0013659 | E | validated | |
| UMLS | C3280296 | 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 (2):
- ORPHA:269528Syndrome with microcephaly as a major feature
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:723264Syndromic port-wine capillary malformation
rare developmental anomalies during embryogenesis; rare circulatory system diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| STAMBP | Disease-causing germline mutation(s) in | Assessed | HGNC:16950 | ENSG00000124356 | 606247 | 2p13.1 | STAM binding protein | 23542699[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | 23542699[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/294016
- This record as JSON: /data/d/294016.json