Microcephaly-cardiomyopathy syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Winship-Viljoen-Leary syndrome |
| Number of Symptoms | 27 |
| OrphanetNr: | 2515 |
| OMIM Id: |
251220
|
| ICD-10: |
Q87.8 |
| UMLs: |
C0796061 C1855080 |
| MeSH: |
C536711 C537324 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 3 cases |
| Inheritance: |
Autosomal recessive 10544231 [IBIS] |
| Age of onset: |
Neonatal Infancy 10544231 [IBIS] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
-Rare developmental defect during embryogenesis -Rare genetic disease Rare genetic intellectual deficit with developmental anomaly -Rare genetic disease Rare intellectual deficit with developmental anomaly -Rare neurologic disease Syndrome associated with dilated cardiomyopathy -Rare cardiac disease -Rare genetic disease Syndrome with microcephaly as major feature -Rare developmental defect during embryogenesis -Rare genetic disease -Rare neurologic disease |
Comment:
| All patients with microcephaly-cardiomyopathy have the same presentation, consisting of microcephaly, developmental delay, and spontaneously resolving dilated cardiomyopathy in addition to some minor dysmorphic features (PMID:10544231). |
Symptom Information:
|
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(HPO:0000510) | Rod-cone dystrophy | Occasional [Orphanet] | 10544231 | IBIS | 266 / 7739 | |
|
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(HPO:0000646) | Amblyopia | 10544231 | IBIS | 42 / 7739 | ||
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(HPO:0004322) | Short stature | Frequent [Orphanet] | 1956062 | IBIS | 1232 / 7739 | |
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(HPO:0001640) | Cardiomegaly | 10544231 | IBIS | 81 / 7739 | ||
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(HPO:0001629) | Ventricular septal defect | Occasional [Orphanet] | 10544231 | IBIS | 316 / 7739 | |
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(HPO:0001638) | Cardiomyopathy | Very frequent [Orphanet] | 10544231 | IBIS | 192 / 7739 | |
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(HPO:0001644) | Dilated cardiomyopathy | 1956062 | IBIS | 141 / 7739 | ||
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(HPO:0002119) | Ventriculomegaly | Occasional [Orphanet] | 1956062 | IBIS | 253 / 7739 | |
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(HPO:0012664) | Reduced ejection fraction | 10544231 | IBIS | 32 / 7739 | ||
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(HPO:0001635) | Congestive heart failure | 10544231 | IBIS | 232 / 7739 | ||
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(HPO:0001249) | Intellectual disability | 1956062 | IBIS | 1089 / 7739 | ||
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(HPO:0012166) | Skin-picking | 10544231 | IBIS | 1 / 7739 | ||
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(HPO:0002360) | Sleep disturbance | 10544231 | IBIS | 113 / 7739 | ||
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(HPO:0001250) | Seizures | Occasional [Orphanet] | 10544231 | IBIS | 1245 / 7739 | |
|
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(HPO:0001511) | Intrauterine growth retardation | Occasional [Orphanet] | 1956062 | IBIS | 358 / 7739 | |
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(HPO:0004209) | Clinodactyly of the 5th finger | Frequent [Orphanet] | 1956062 | IBIS | 288 / 7739 | |
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(HPO:0001847) | Long hallux | 10544231 | IBIS | 13 / 7739 | ||
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(HPO:0001852) | Sandal gap | Frequent [Orphanet] | 1956062 | IBIS | 63 / 7739 | |
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(HPO:0000252) | Microcephaly | Very frequent [Orphanet] | 1956062 | IBIS | 832 / 7739 | |
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(HPO:0000340) | Sloping forehead | Occasional [Orphanet] | 10544231 | IBIS | 86 / 7739 | |
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(HPO:0002025) | Anal stenosis | 20402073 | IBIS | 23 / 7739 | ||
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(HPO:0000494) | Downslanted palpebral fissures | 20402073 | IBIS | 328 / 7739 | ||
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(HPO:0002705) | High, narrow palate | Occasional [Orphanet] | 10544231 | IBIS | 308 / 7739 | |
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(HPO:0000356) | Abnormality of the outer ear | Frequent [Orphanet] | 10544231 | IBIS | 85 / 7739 | |
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(HPO:0000369) | Low-set ears | 20402073 | IBIS | 372 / 7739 | ||
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(HPO:0040075) | Hypopituitarism | 20402073 | IBIS | 32 / 7739 | ||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 10544231 | IBIS | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|