Microcephaly-seizures-intellectual disability-heart disease syndrome
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare, multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly, intellectual disability, seizures, and congenital heart defects (e.g. atrial/ventricular septal defect, hypoplastic aortic arch with persistent ductus arteriosus). Additional manifestations include mild hypothyroidism, skeletal abnormalities, micropenis, delayed psychomotor development, dysmorphic facial features (including epicanthus, depressed nasal bridge, prominent antitragus), and pulmonary vascular occlusive disease. There have been no further descriptions in the literature since 1989.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microcephaly-seizures-intellectual disability-heart disease syndrome | |
| fr | Syndrome de microcéphalie-épilepsie-déficience intellectuelle-cardiopathie | |
| de | Mikrozephalie-Krämpfe-Intelligenzminderung-Kardiopathie-Syndrom | |
| es | Síndrome de microcefalia-crisis-discapacidad intelectual-cardiopatía | |
| it | Sindrome microcefalia-crisi epilettiche-disabilità intellettiva-cardiopatia | |
| nl | Microcefalie - epileptische aanvallen - intellectuele achterstand - hartziekte-syndroom | |
| pt | Síndrome de microcefalia-convulsões-perturbação do desenvolvimento intelectual-cardiopatia | |
| pl | Mikrocefalia - napady padaczkowe - niepełnosprawność intelektualna - choroba serca | |
| cs | Syndrom zahrnující mikrocefalii, záchvaty, mentální retardaci a srdeční onemocnění | |
| uk | Синдром мікроцефалії-судом-інтелектуальної недостатності-серцевих захворювань | |
| zh | 小头畸形-癫痫-智力低下-心脏病综合征 | |
| tr | Mikrosefali nöbetler-zihinsel yetersizlik-kalp hastalığı sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | attributed | validated |
| MONDO | 0016719 | E | validated | |
| MeSH | C537544 | E | validated | |
| UMLS | C4509817 | 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 (4):
- 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:156532Rare syndrome with cardiac malformations
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases - ORPHA:522520Syndromic genetic disorder with strabismus
rare genetic 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 | 2585466[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_2585466[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
24 annotations · validated 2019-03-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001631 | Atrial septal defect | |
| HP:0000851 | Congenital hypothyroidism | |
| HP:0006934 | Congenital nystagmus | |
| HP:0008947 | Floppy infant | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| HP:0000054 | Micropenis | |
| HP:0001250 | Seizure | |
| Frequent (79-30%) | ||
| HP:0000772 | Abnormal rib morphology | |
| HP:0000766 | Abnormal sternum morphology | |
| HP:0000885 | Broad ribs | |
| HP:0000028 | Cryptorchidism | |
| HP:0000286 | Epicanthus | |
| HP:0000565 | Esotropia | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0000252 | Microcephaly | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0001162 | Postaxial hand polydactyly | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0005989 | Redundant neck skin | |
| HP:0002098 | Respiratory distress | |
| HP:0000773 | Short ribs | |
| HP:0002558 | Supernumerary nipple | |
| HP:0001629 | Ventricular septal defect | |
Annotation source: 8320715[PMID]_2585466[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2519
- This record as JSON: /data/d/2519.json