{"orpha":2498,"name":"Syndactyly type 8","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Fusion of metacarpals 4 and 5"],"definition":"A rare non-syndromic syndactyly characterized by unilateral or bilateral fusion of the 4th and 5th metacarpals with no other associated abnormalities. Patients present shortened 4th and 5th metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the 5th finger in parallel with the other fingers.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2498/","orphanet_url":"https://www.orpha.net/en/disease/detail/2498","names":{"fr":{"name":"Syndactylie type 8","synonyms":["Fusion des métacarpes 4 et 5","Métacarpes 4 et 5 fusionnés"],"definition":"Une malformation génétique congénitale, non syndromique, rare, affectant les membres. Elle se caractérise par la fusion unilatérale ou bilatérale des quatrièmes et cinquièmes métacarpes, sans autre anomalie associée. Les patients présentent des quatrièmes et cinquièmes métacarpes raccourcis, avec une séparation excessive au niveau de leur terminaison distale, ce qui conduit à une déviation ulnaire prononcée au niveau de l'auriculaire, et à l'incapacité à le positionner de manière parallèle aux autres doigts."},"de":{"name":"Syndaktylie Typ 8","synonyms":["Mittelhandknochen 4 und 5, Fusion der"],"definition":"Eine seltene nicht-syndromale Gliedmaßenfehlbildung, die durch eine ein- oder beidseitige Fusion des 4. und 5. Metakarpalknochens ohne weitere Fehlbildungen gekennzeichnet ist. Die Patienten weisen verkürzte 4. und 5. Mittelhandknochen mit übermäßigem Abstand zwischen ihren distalen Enden auf, was zu einer ausgeprägten Ulnardeviation des kleinen Fingers und der Unfähigkeit führt, den 5. Finger parallel zu den anderen Fingern zu stellen."},"es":{"name":"Sindactilia tipo 8","synonyms":["Fusión de los metacarpianos 4 y 5"],"definition":"Es una sindactilia no sindrómica poco frecuente caracterizada por la fusión unilateral o bilateral del cuarto y quinto metacarpianos sin otras anomalías asociadas. Los pacientes presentan los cuartos y quintos metacarpianos acortados con separación excesiva entre sus extremos distales, lo que resulta en una marcada desviación cubital del dedo meñique y en incapacidad para colocar el quinto dedo en paralelo con los otros dedos de la mano."},"it":{"name":"Sindattilia, tipo 8","synonyms":["Fusione del IV e V metacarpo"],"definition":"La sindattilia tipo 8 è una patologia malformativa congenita rara non sindromica degli arti, di origine genetica, caratterizzata dalla fusione mono- o bi-laterale del quarto e quinto metacarpo, in assenza di altre anomalie. I pazienti presentano un accorciamento del quarto e del quinto metacarpo, con un iperdistanziamento tra le loro estremità distali, che esita in una marcata deviazione ulnare del mignolo e nell'impossibilità di allineare il quinto dito alle altre dita."},"nl":{"name":"Syndactylie type 8","synonyms":["Fusie van metacarpalen 4 en 5"],"definition":"Een zeldzame, niet-syndromale syndactylie, gekarakteriseerd door unilaterale of bilaterale fusie van de 4de en 5de metacarpalen, zonder enige andere geassocieerde anomalieën. Patiënten vertonen verkorte 4de en 5de metacarpalen met bovenmatige scheiding tussen hun distale uiteinden, wat leidt tot aanzienlijke ulnaire deviatie van pink en een onvermogen om de 5de vinger parallel te houden met de andere vingers."},"pt":{"name":"Sindactilia tipo 8","synonyms":["Fusão dos 4 e 5 metacarpianos"]},"pl":{"name":"Syndaktylia typu 8","synonyms":["Zrost 4 i 5 kości śródręcza"],"definition":"*Syndaktylia typu 8 to rzadka, genetyczna, izolowana (niewystępująca w zespole) wrodzona wada kończyn, która charakteryzuje się jednostronnym lub obustronnym zrostem (zespoleniem) czwartych i piątych kości śródręcza bez innych towarzyszących anomalii. U pacjentów skrócone są czwarte i piąte kości śródręcza, z nadmiernym odstępem między ich dalszymi końcami, co powoduje wyraźne łokciowe odchylenie małego palca i niemożność ustawienia piątego palca w położeniu równoległym do pozostałych palców."},"cs":{"name":"Syndaktylie typu 8","synonyms":["Fúze metakarpů 4 a 5"]},"uk":{"name":"Синдактилія 8 типу","synonyms":["Зрощення пясткових кісток 4 і 5"],"definition":"A rare non-syndromic syndactyly characterized by unilateral or bilateral fusion of the 4th and 5th metacarpals with no other associated abnormalities. Patients present shortened 4th and 5th metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the 5th finger in parallel with the other fingers."},"zh":{"name":"并指症8型","synonyms":["第4和5掌骨融合"]},"tr":{"name":"Sindaktili tip 8","synonyms":["Metakarpal 4 ve 5'in füzyonu"]}},"xrefs":[{"source":"OMIM","code":"309630","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q70.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB79.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"577712860"},{"source":"MONDO","code":"0010669","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564100","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1839728","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3559","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":90025,"name":"Non-syndromic syndactyly","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"FGF16","name":"fibroblast growth factor 16","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23709756[PMID]","hgnc":"3672","ensembl":"ENSG00000196468","omim":"300827","loci":["Xq21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","X-linked recessive"],"onset":[],"prevalence":[],"phenotypes":null}