{"orpha":3004,"name":"Mirror polydactyly-vertebral segmentation-limbs defects syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3004/","orphanet_url":"https://www.orpha.net/en/disease/detail/3004","names":{"fr":{"name":"Syndrome de polydactylie en miroir-segmentation vertébrale-anomalies des membres","definition":"Le syndrome de polydactylie en miroir-segmentation vertébrale-anomalies des membres est caractérisé par une polydactylie en miroir, une hypersegmentation vertébrale et des malformations congénitales sévères des membres. Une atrésie duodénale et l'absence de thymus ont également été rapportées. A ce jour, ce syndrome a été décrit chez quatre enfants non apparentés, identifiés grâce à un programme de dépistage des malformations congénitales mené en Espagne. La prévalence a été estimée à 1/330 000 environ. L'étiologie est inconnue mais ce syndrome pourrait être dû au défaut d'expression d'un gène de contrôle du développement."},"de":{"name":"Syndrom der Spiegelpolydaktylie mit hypersegmentalen Wirbelköpern und Extremitätenanomalien","definition":"Dieses Syndrom ist gekennzeichnet durch Spiegel-Polydaktylie, Übersegmentierung der Wirbel, schwere angeborene Reduktion der Gliedmaßen, Duodenalatresie und Fehlen des Thymus."},"es":{"name":"Síndrome de polidactilia en espejo-segmentación vertebral-anomalías de las extremidades","definition":"Es un trastorno poco frecuente caracterizado por polidactilia en espejo, hipersegmentación vertebral y anomalías congénitas graves de los miembros. También se registró atresia duodenal y ausencia de timo. Hasta la fecha se ha descrito en cuatro niños sin parentesco identificados a través de un programa de detección de malformaciones congénitas realizado en España. Se estima una prevalencia de aproximada de 1 entre 330.000 individuos. La etiología es desconocida, aunque se ha sugerido que el síndrome está causado por la expresión defectuosa de un gen de control del desarrollo."},"it":{"name":"Polidattilia a specchio - segmentazione vertebrale - anomalie degli arti"},"nl":{"name":"Spiegelpolydactylie - vertebrale segmentatie - ledemaatdefecten-syndroom","definition":"Een zeldzame aandoening gekarakteriseerd door symmetrische polydactylie, vertebrale hypersegmentatie en ernstige congenitale deficiëntie van ledematen. Atresie van duodenum en afwezigheid van thymus werden ook gerapporteerd. Tot op heden werd het beschreven bij vier niet-verwante zuigelingen die werden geïdentificeerd door een screeningsprogramma voor congenitale malformaties dat werd uitgevoerd in Spanje. De prevalentie werd geschat rond 1 op 330.000. De etiologie is niet gekend maar er werd gesuggereerd dat het syndroom veroorzaakt wordt door defecte expressie van een gen dat de ontwikkeling controleert."},"pt":{"name":"Síndrome de polidactilia em espelho-segmentação vertebral-defeitos dos membros"},"pl":{"name":"Polidaktylia lustrzana - segmentacja kręgów - wady kończyn"},"cs":{"name":"Syndrom zahrnující zrcadlovou polydaktylii, segmentaci obratlů a defekty končetin"},"uk":{"name":"Синдром дзеркальної полідактилії-вертебральної сегментації-дефектів кінцівок","definition":"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."},"zh":{"name":"镜像多指(趾)畸形-脊椎骨分节障碍-肢体缺损综合征"},"tr":{"name":"Ayna polidaktili-vertebral segmentasyon-ekstremite defektleri sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q87.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD26.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"435293086"},{"source":"MONDO","code":"0017583","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4275100","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":294959,"name":"Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.3,"area":"Spain","status":"Validated","source":"9409874[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.3,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002247","label":"Duodenal atresia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009829","label":"Phocomelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001171","label":"Split hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003422","label":"Vertebral segmentation defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005359","label":"Aplasia of the thymus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001829","label":"Foot polydactyly","frequency":"Frequent (79-30%)","criteria":null}]}}