{"orpha":2935,"name":"Crossed polysyndactyly","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, hereditary, congenital limb malformation characterized by polydactyly with crossed involvement of hands and feet with no other associated malformations or anomalies. Patients present with a combination of unilateral or bilateral preaxial polydactyly of hands with postaxial polydactyly of feet or postaxial polydactyly of hands with preaxial polydactyly of feet. Additional manifestations include bilateral cutaneous syndactyly of first, second and third toes and occasionally cutaneous syndactyly of hands.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2935/","orphanet_url":"https://www.orpha.net/en/disease/detail/2935","names":{"fr":{"name":"Polysyndactylie croisée","definition":"Anomalie congénitale rare et héréditaire des membres, caractérisée par une polydactylie avec atteinte croisée des mains et des pieds, en l'absence d'autre malformation ou anomalie associée. Les patients présentent une association de polydactylie préaxiale unilatérale ou bilatérale des mains avec une polydactylie postaxiale des pieds ou une polydactylie postaxiale des mains avec polydactylie préaxiale des pieds. Les autres signes cliniques incluent une syndactylie cutanée bilatérale des premier, deuxième et troisième orteils et, plus rarement, une syndactylie cutanée des mains."},"de":{"name":"Polysyndaktylie, gekreuzte","definition":"Eine hereditäre kongenitale Extremitätenfehlbildung, die durch Polydaktylie mit überkreuzter Beteiligung von Händen und Füßen gekennzeichnet ist, ohne dass andere Fehlbildungen oder Anomalien damit einhergehen. Die Patienten weisen eine Kombination aus einseitiger oder beidseitiger präaxialer Polydaktylie der Hände mit postaxialer Polydaktylie der Füße oder postaxialer Polydaktylie der Hände mit präaxialer Polydaktylie der Füße auf. Weitere Manifestationen sind die bilaterale kutane Syndaktylie der ersten, zweiten und dritten Zehe und gelegentlich die kutane Syndaktylie der Hände."},"es":{"name":"Polisindactilia cruzada","definition":"Es una malformación congénita de las extremidades, hereditaria y poco frecuente, caracterizada por polidactilia con afectación cruzada de manos y pies sin otras malformaciones o anomalías asociadas. Los pacientes se presentan con una combinación de polidactilia preaxial uni- o bilateral de las manos con polidactilia postaxial de los pies o polidactilia postaxial de las manos con polidactilia preaxial de los pies. Otras manifestaciones adicionales incluyen sindactilia cutánea bilateral del primer, segundo y tercer dedo del pie y ocasionalmente sindactilia cutánea de las manos."},"it":{"name":"Polisindattilia crociata","synonyms":["Polidattilia crociata"],"definition":"Si tratta di una malformazione congenita ereditaria rara degli arti, caratterizzata da polidattilia con interessamento crociato delle mani e dei piedi, in assenza di altre malformazioni o anomalie. I pazienti presentano polidattilia preassiale mono- o bilaterale della mano e polidattilia postassiale del piede, oppure polidattilia postassiale della mano e polidattilia preassiale del piede. Altri segni clinici sono la sindattila cutanea bilaterale del primo, secondo e terzo dito del piede e, raramente, la sindattilia cutanea della mano."},"nl":{"name":"Gekruiste polysyndactylie","definition":"Een zeldzame, erfelijke, congenitale ledemaatmalformatie, gekarakteriseerd door polydactylie met kruisgewijze betrokkenheid van handen en voeten, en zonder enige andere geassocieerde malformaties of anomalieën. Patiënten presenteren zich met een combinatie van unilaterale of bilaterale preaxiale polydactylie van handen en postaxiale polydactylie van voeten, of van postaxiale polydactylie van handen en preaxiale polydactylie van voeten. Bijkomende manifestaties zijn onder meer bilaterale cutane syndactylie van eerste, tweede en derde tenen, en occasioneel cutane syndactylie van handen."},"pt":{"name":"Polissindactilia cruzada"},"pl":{"name":"Polisyndaktylia skrzyżowana","synonyms":["Polidaktylia skrzyżowana"],"definition":"*Polidaktylia skrzyżowana to rzadki, genetycznie uwarunkowany, wrodzony zespół wad kończyn, który charakteryzuje się jednostronną lub obustronną pozaosiową polidaktylią (wielopalczastością) dłoni i przedosiową polidaktylią stóp, z towarzyszącą obustronną skórną syndaktylią (palcozrostem) pierwszego, drugiego i trzeciego palca stóp. U niektórych pacjentów opisywano również skórną syndaktylię palców dłoni. Od 1994 roku w literaturze nie ma nowych opisów."},"cs":{"name":"Zkřížená polysyndaktylie","synonyms":["Zkřížená polydaktylie"]},"uk":{"name":"Перехресна полісиндактилія","definition":"A rare, hereditary, congenital limb malformation characterized by polydactyly with crossed involvement of hands and feet with no other associated malformations or anomalies. Patients present with a combination of unilateral or bilateral preaxial polydactyly of hands with postaxial polydactyly of feet or postaxial polydactyly of hands with preaxial polydactyly of feet. Additional manifestations include bilateral cutaneous syndactyly of first, second and third toes and occasionally cutaneous syndactyly of hands."},"zh":{"name":"交叉性多指(趾)并指(趾)畸形"},"tr":{"name":"Çizgili polisindaktili"}},"xrefs":[{"source":"OMIM","code":"175690","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q70.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD26.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1884305247"},{"source":"MONDO","code":"0008286","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566773","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1867999","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1617","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":["Autosomal dominant"],"onset":["Antenatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":12.0,"area":"Worldwide","status":"Validated","source":"8042663[PMID]_20127219 [PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8042663[PMID]_20127219 [PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001162","label":"Postaxial hand polydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007477","label":"Abnormal dermatoglyphics","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000356","label":"Abnormality of the outer ear","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000288","label":"Abnormality of the philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009601","label":"Aplasia/Hypoplasia of the thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000364","label":"Hearing abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Occasional (29-5%)","criteria":null}]}}