{"orpha":1122,"name":"Ulnar hypoplasia-split foot syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Ulnar hypoplasia-lobster-claw deformity of feet syndrome","Van den Berghe-Dequecker syndrome"],"definition":"A rare dysostosis with combined reduction of upper and lower limbs characterized by severe ulnar hypoplasia, absence of fingers two to five, and split-foot. Mostly both hands and feet are affected. Patients may also present with curved and broad radius with cortical thickening. There have been no further descriptions in the literature since 1978.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1122/","orphanet_url":"https://www.orpha.net/en/disease/detail/1122","names":{"fr":{"name":"Syndrome d'aplasie cubitale-pied fendu","synonyms":["Syndrome de Van den Berghe-Dequeker"],"definition":"Dysostose rare avec anomalies réductionnelles combinées des membres supérieurs et inférieurs caractérisée par une hypoplasie ulnaire sévère,, l'absence des 2<sup>es</sup> et 5<sup>es</sup> doigts et un pied fendu. Les deux mains et les deux pieds sont touchés dans la plupart des cas. Les patients peuvent également présenter un radius large et incurvé et un épaississement cortical. Aucun cas n'a été décrit dans la littérature depuis 1978."},"de":{"name":"Ulna-Hypoplasie-Spaltfuß-Syndrom","synonyms":["Ulna-Hypoplasie - Krebsscheren-Defektfehlbildung der Füße","Van den Berghe-Dequecker-Syndrom"],"definition":"Eine seltene Dysostose mit kombinierter Verkürzung der oberen und unteren Gliedmaßen, die durch eine schwere ulnare Hypoplasie, das Fehlen der Finger zwei bis fünf und einen Spaltfuß gekennzeichnet ist. Meist sind sowohl Hände als auch Füße betroffen. Bei den Patienten kann es auch zu einer Krümmung und Verbreiterung des Radius mit kortikaler Verdickung kommen. Seit 1978 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de hipoplasia cubital-pies hendidos","synonyms":["Hipoplasia cubital-deformidad de los pies en garra de langosta","Síndrome de Van de Berghe-Dequeker"],"definition":"Es una disostosis poco frecuente con reducción combinada de las extremidades superiores e inferiores caracterizada por hipoplasia cubital grave, ausencia de los dedos dos a cinco de la mano y pie partido. Afecta fundamentalmente tanto a las manos como a los pies. Los pacientes también pueden presentar un radio ancho e incurvado con engrosamiento cortical. No ha habido más descripciones en la literatura desde 1978."},"it":{"name":"Ipoplasia ulnare - schisi dei piedi","synonyms":["Ipoplasia ulnare - piedi a \"chela di aragosta\"","Sindrome di Van den Berghe-Dequecker"]},"nl":{"name":"Hypoplasie van ulna - gespleten voet-syndroom","synonyms":["Ulnaire hypoplasie - kreeftenvoet-syndroom","Syndroom van Van den Berghe-Dequeker"],"definition":"Een zeldzame dysostose met gecombineerde reductie van bovenste en onderste ledematen, gekenmerkt door ernstige hypoplasie van ulna, afwezigheid van vingers twee tot vijf, en gespleten voet. In de meeste gevallen zijn beide handen en voeten aangetast. Patiënten hebben mogelijk ook een kromme en brede radius met corticale verdikking. Sinds 1978 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de hipoplasia cubital-ectrodactilia dos pés","definition":"Disostose rara com diminuição combinada dos membros superiores e inferiores, caracterizada por hipoplasia ulnar grave, ausência dos dedos dois a cinco e pé fendido. Habitualmente são afetados todos os membros. Os doentes podem também apresentar uma curvatura e alargamento do rádio com espessamento cortical. Não existem descrições adicionais na literatura desde 1978."},"pl":{"name":"Niedorozwój kości łokciowej - rozszczep stopy","synonyms":["Hipoplazja kości łokciowej - deformacja stóp typu szczypce homara","Zespół Van den Berghe i Dequeckera"],"definition":"Rzadka dysostoza z towarzyszącym skróceniem kończyn górnych i dolnych, która charakteryzuje się ciężką hipoplazją kości łokciowej, brakiem palców od drugiego do piątego oraz rozszczepem stopy. Najczęściej dotyczy obu dłoni i stóp. Opisywano również zakrzywienie i poszerzenie kości promieniowej z pogrubieniem warstwy korowej. Od 1978 r. nie ma dalszych opisów w literaturze."},"cs":{"name":"Syndrom zahrnující ulnární hypoplázii a rozštěpenou nohu","synonyms":["Syndrom zahrnující ulnární hypoplázii a klepetovitou deformitu nohy","Van den Bergheho-Dequeckerův syndrom","Van den Berghe-Dequeckerův syndrom"]},"uk":{"name":"Синдром гіпоплазії ліктьової кістки - розщеплення стопи","synonyms":["Синдром ліктьової гіпоплазії - лобстерно-кігтьової деформації стоп","Синдром Ван ден Берге-Декекера"],"definition":"Ulnar hypoplasia-split foot syndrome is characterised by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded."},"zh":{"name":"尺骨发育不全-裂足综合征","synonyms":["尺骨发育不良-龙虾爪畸形足综合征"]},"tr":{"name":"Ulnar hipoplazi-bölünmüş ayak sendromu","synonyms":["Van den Berghe-Dequecker sendromu","Ayak sendromunun ulnar hipoplazisi-ıstakoz-pençe deformitesi"]}},"xrefs":[{"source":"OMIM","code":"314360","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q73.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010750","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536936","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518553","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5400","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":294957,"name":"Dysostosis with combined reduction defects of upper and lower limbs","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_565745[PMID]"},{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"565745[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0006501","label":"Aplasia/Hypoplasia of the radius","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003022","label":"Hypoplasia of the ulna","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001171","label":"Split hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001839","label":"Split foot","frequency":"Frequent (79-30%)","criteria":null}]}}