ORPHA:2476
Dysraphism-cleft lip/palate-limb reduction defects syndrome
historical
Synonyms: Medeira-Dennis-Donnai syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal
- Status
- historical
A rare developmental defect during embryogenesis disorder characterized by spinal dysraphism, cleft lip and palate, limb reduction defects and anencephaly. There have been no further descriptions in the literature since 1994.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dysraphism-cleft lip/palate-limb reduction defects syndrome | Medeira-Dennis-Donnai syndrome |
| fr | Syndrome de dysraphie-fente labiopalatine-anomalie des membres | Syndrome de Medeira-Dennis-Donnai |
| de | Dysraphie mit Lippen-Kiefer-Gaumen-Spalte und Reduktionsdefekt der Extremitäten | Medeira-Dennis-Donnai-Syndrom |
| es | Síndrome de disrafismo-fisura labiopalatina-defectos por reducción de extremidades | Síndrome de Medeira-Dennis-Donnai |
| it | Sindrome da disrafia-labio/palatoschisi-difetti in riduzione degli arti | Sindrome di Medeira-Dennis-Donnai |
| nl | Dysrafie - gespleten lip/verhemelte - reductiedefect van ledemaat-syndroom | Syndroom van Medeira-Dennis-Donnai |
| pt | Sindrome de disrafismo-fenda do lábio/palato-defeitos de redução dos membros | Síndrome Medeira-Dennis-Donnai |
| pl | Zespół Medeira, Dennisa i Donnai | Dysrafizm - rozszczep wargi/podniebienia - wady redukcji/amputacji kończyn |
| cs | Medeirové-Dennisův-Donnaiové syndrom | Syndrom zahrnující dysrafismus, rozštěp rtu/patra a redukční defekty končetin · Medeira-Dennis-Donnaiové syndrom |
| uk | Синдром дисрафізму-розщілини губи/піднебіння-редукції кінцівок | Синдром Медейри-Денніса-Доннаї |
| zh | 唇裂/腭裂肢体复位缺损综合征 | Medeira-Dennis-Donnai综合征 |
| tr | Disrafizm-yarık dudak / damak-ekstremite redüksiyon defektleri sendromu | Medeira-Dennis-Donnai sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q00.0 | BTNT | attributed | validated |
| MONDO | 0016604 | E | validated | |
| UMLS | C5679624 | E | validated | |
| GARD | 3438 | 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 (1):
- ORPHA:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial 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 | 7981865[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_7981865[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
9 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002323 | Anencephaly | |
| HP:0006501 | Aplasia/Hypoplasia of the radius | |
| HP:0000175 | Cleft palate | |
| HP:0004397 | Ectopic anus | |
| HP:0001543 | Gastroschisis | |
| HP:0004383 | Hypoplastic left heart | |
| HP:0100335 | Non-midline cleft of the upper lip | |
| HP:0002414 | Spina bifida | |
| HP:0001629 | Ventricular septal defect | |
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2476
- This record as JSON: /data/d/2476.json