Microcephaly-cardiomyopathy syndrome
Synonyms: Winship-Viljoen-Leary syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Microcephaly-cardiomyopathy syndrome is characterised by severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microcephaly-cardiomyopathy syndrome | Winship-Viljoen-Leary syndrome |
| fr | Syndrome de microcéphalie-cardiomyopathie | Syndrome de Winship-Viljoen-Leary |
| de | Mikrozephalie-Kardiomyopathie-Syndrom | Winship-Viljoen-Leary-Syndrom |
| es | Síndrome de microcefalia-miocardiopatía | Síndrome de Winship-Viljoen-Leary |
| it | Microcefalia - cardiomiopatia | Sindrome di Winship-Viljoen-Leary |
| nl | Microcefalie - cardiomyopathie-syndroom | Syndroom van Winship-Viljoen-Leary |
| pt | Síndrome de microcefalia-miocardiopatia | Síndrome Winship-Viljoen-Leary |
| pl | Małogłowie - kardiomiopatia | Zespół Winship, Viljoena i Leary |
| cs | Syndrom zahrnující mikrocefalii a kardiomyopatii | Winshipův-Viljoenův-Learyho syndrom · Winship-Viljoen-Learyho syndrom |
| uk | Синдром мікроцефалії-кардіоміопатії | Синдром Віншипа-Вільйоена-Лірі |
| zh | 小头畸形-心肌病综合征 | Winship-Viljoen-Leary综合征 |
| tr | Mikrosefali-kardiyomiyopati sendromu | Winship-Viljoen-Leary sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 251220 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1 | NTBT | attributed | validated |
| MONDO | 0009618 | E | validated | |
| MeSH | C536711 | E | validated | |
| UMLS | C1855080 | E | validated | |
| GARD | 3609 | 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:217619Syndrome associated with dilated cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:269528Syndrome with microcephaly as a major feature
rare developmental anomalies during embryogenesis; rare genetic diseases; 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 | 3 cases | Worldwide | Case(s) | Validated | 1956062[PMID]_10544231[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_1956062[PMID]_10544231[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
15 annotations · validated 2017-08-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100543 | Cognitive impairment | |
| HP:0001644 | Dilated cardiomyopathy | |
| HP:0001249 | Intellectual disability | |
| HP:0000252 | Microcephaly | |
| Frequent (79-30%) | ||
| HP:0000356 | Abnormality of the outer ear | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0001852 | Sandal gap | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0002705 | High, narrow palate | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0001250 | Seizure | |
| HP:0000340 | Sloping forehead | |
| HP:0001629 | Ventricular septal defect | |
| HP:0002119 | Ventriculomegaly | |
Run the differential on the 4 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2515
- This record as JSON: /data/d/2515.json