ORPHA:2516
Microcephaly-cardiac defect-lung malsegmentation syndrome
historical
Synonyms: Ellis-Yale-Winter syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- historical
Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microcephaly-cardiac defect-lung malsegmentation syndrome | Ellis-Yale-Winter syndrome |
| fr | Syndrome de microcéphalie-cardiopathie-malsegmentation pulmonaire | Syndrome d'Ellis-Yale-Winter |
| de | Mikrozephalie - Herzfehler - Lungenfehlbildung | Ellis-Yale-Winter-Syndrom |
| es | Síndrome de microcefalia-defecto cardíaco-malsegmentación pulmonar | |
| it | Microcefalia - cardiopatia - difetti della segmentazione polmonare | |
| nl | Microcefalie - hartdefect - longmalsegmentatie-syndroom | Syndroom van Ellis-Yale-Winter |
| pt | Síndrome de microcefalia-anomalia cardíaca-defeito de segmentação pulmonar | Síndrome Ellis-Yale-Winter |
| pl | Małogłowie - wada serca - nieprawidłowa segmentacja płuc | Zespół Ellisa, Yale i Winter |
| cs | Syndrom zahrnující mikrocefalii, srdeční vadu a malsegmentaci plic | Ellisův-Yaleův-Winterův syndrom · Ellis-Yale-Winterův syndrom |
| uk | Синдром мікроцефалії-серцевої вади-мальсегментації легень | Синдром Елліса-Йела-Вінтерна |
| zh | 小头畸形-心脏缺陷-肺分段异常综合征 | Ellis-Yale-Winter 综合征 |
| tr | Mikrosefali-kardiyak defekt-akciğer malsegmentasyon sendromu | Ellis-Yale-Winter sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601355 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | attributed | validated |
| MONDO | 0011050 | E | validated | |
| MeSH | C536205 | E | validated | |
| UMLS | C2931129 | E | validated | |
| GARD | 2098 | 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 (3):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:156532Rare syndrome with cardiac malformations
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 8723562[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8723562[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.
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HPO phenotypes
23 annotations · validated 2017-09-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002101 | Abnormal lung lobation | |
| HP:0100543 | Cognitive impairment | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000252 | Microcephaly | |
| HP:0001629 | Ventricular septal defect | |
| Frequent (79-30%) | ||
| HP:0001679 | Abnormal aortic morphology | |
| HP:0000383 | Abnormality of periauricular region | |
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0000581 | Blepharophimosis | |
| HP:0000175 | Cleft palate | |
| HP:0002705 | High, narrow palate | |
| HP:0001252 | Hypotonia | |
| HP:0001387 | Joint stiffness | |
| HP:0000347 | Micrognathia | |
| HP:0004467 | Preauricular pit | |
| HP:0000104 | Renal agenesis | |
| HP:0008678 | Renal hypoplasia/aplasia | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0000470 | Short neck | |
| HP:0001660 | Truncus arteriosus | |
| HP:0000430 | Underdeveloped nasal alae | |
| HP:0000465 | Webbed neck | |
| HP:0006610 | Wide intermamillary distance | |
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2516
- This record as JSON: /data/d/2516.json