Mirror polydactyly-vertebral segmentation-limbs defects syndrome
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- historical
A rare disorder characterized by mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus were also reported. So far, it has been described in four unrelated infants identified through a congenital malformation screening program carried out in Spain. The prevalence was estimated at around 1 in 330,000. The etiology is unknown but it was suggested that the syndrome is caused by defective expression of a developmental control gene.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mirror polydactyly-vertebral segmentation-limbs defects syndrome | |
| fr | Syndrome de polydactylie en miroir-segmentation vertébrale-anomalies des membres | |
| de | Syndrom der Spiegelpolydaktylie mit hypersegmentalen Wirbelköpern und Extremitätenanomalien | |
| es | Síndrome de polidactilia en espejo-segmentación vertebral-anomalías de las extremidades | |
| it | Polidattilia a specchio - segmentazione vertebrale - anomalie degli arti | |
| nl | Spiegelpolydactylie - vertebrale segmentatie - ledemaatdefecten-syndroom | |
| pt | Síndrome de polidactilia em espelho-segmentação vertebral-defeitos dos membros | |
| pl | Polidaktylia lustrzana - segmentacja kręgów - wady kończyn | |
| cs | Syndrom zahrnující zrcadlovou polydaktylii, segmentaci obratlů a defekty končetin | |
| uk | Синдром дзеркальної полідактилії-вертебральної сегментації-дефектів кінцівок | |
| zh | 镜像多指(趾)畸形-脊椎骨分节障碍-肢体缺损综合征 | |
| tr | Ayna polidaktili-vertebral segmentasyon-ekstremite defektleri sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.2 | NTBT | attributed | validated |
| ICD-11 | LD26.2 | NTBT | index | validated |
| MONDO | 0017583 | E | validated | |
| UMLS | C4275100 | 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 (1):
- ORPHA:294959Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone 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 |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.3 / 100 000 | Spain | Value and class | Validated | 9409874[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.3 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
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
7 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002247 | Duodenal atresia | |
| HP:0009829 | Phocomelia | |
| HP:0004322 | Short stature | |
| HP:0001171 | Split hand | |
| HP:0003422 | Vertebral segmentation defect | |
| Frequent (79-30%) | ||
| HP:0005359 | Aplasia of the thymus | |
| HP:0001829 | Foot polydactyly | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3004
- This record as JSON: /data/d/3004.json