{"orpha":369979,"name":"Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, congenital limb malformation syndrome characterized by bilateral short broad thumbs, short deviated index fingers, clinodactyly of the fifth fingers, broad, valgus-deviated halluces and laterally-deviated, overlapping second toe, associated with severe pectus excavatum and craniofacial dysmorphism (including brachycephaly, low anterior hairline, flat supraorbital ridges, telecanthus, upslanting palpebral fissures, maxillary hypoplasia, posteriorly rotated ears, microsomia and micrognathia). Radiological findings include thumb, index, and middle finger hyperphalangy, with severe delta phalanxes in affected fingers and halluces.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-369979/","orphanet_url":"https://www.orpha.net/en/disease/detail/369979","names":{"fr":{"name":"Syndrome d'hyperphalangie des doigts de la main-anomalies des orteils-pectus excavatum sévère","definition":"Syndrome de malformation congénitale des membres d'origine génétique rare, caractérisé par des pouces courts et larges, des index courts et déviés, une clinodactylie des 5<sup>es</sup> doigts, un hallux valgus, un 2<sup>e</sup> orteil chevauchant, associé à une forme sévère de pectus excavatum et à une dysmorphie craniofaciale (y compris brachycéphalie, implantation basse de la ligne antérieure des cheveux, crêtes supra-orbitales, télécanthus, fentes palpébrales inclinées vers le bas, hypoplasie maxillaire, oreilles tournées en arrière, microsomie et micrognathie). Des radiographies montrent une hyperphalangie du pouce, de l'index et du majeur, et une forme sévère de phalanges delta des doigts et des gros orteils affectés."},"de":{"name":"Hyperphalangie der Finger-Zehenanomalie-schweres Pectus excavatum-Syndrom"},"es":{"name":"Síndrome de hiperfalangia de los dedos-anomalías de los pies-pectus excavatum grave","definition":"El síndrome de hiperfalangia de los dedos - anomalías de los pies - pectus excavatum grave es un síndrome de malformación congénita de las extremidades, poco común y genético, caracterizado por pulgares anchos y cortos bilaterales, dedos índice cortos y desviados, clinodactilia del quinto dedo de la mano, \"hallux valgus\" anchos y desviados lateralmente, superposición del segundo dedo del pie, asociado con <i>pectus excavatum</i> grave y dismorfia craneofacial (incluyendo braquicefalia, línea anterior de implantación del cabello baja, crestas supraorbitales planas, telecanto, fisuras palpebrales inclinadas hacia arriba, hipoplasia maxilar, orejas rotadas posteriormente, microsomía y micrognatia). Los hallazgos radiológicos incluyen hiperfalangia del pulgar, índice y dedo medio, con falanges en delta graves en los dedos de las manos y pies afectados."},"it":{"name":"Sindrome da iperfalangismo delle dita delle mani, anomalie delle dita dei piedi e pectus excavatum grave","definition":"La sindrome che associa l'iperfalangismo delle dita delle mani, le anomalie delle dita dei piedi e il pectus excavatum grave è una malformazione congenita genetica rara degli arti, caratterizzata da pollici corti e larghi, indici corti e deviati, clinodattilia del quinto dito della mano, alluci larghi e valghi deviati lateralmente, con sovrapposizione del secondo dito, associati a pectus excavatum grave e dismorfismi craniofacciali (brachicefalia, impianto basso dei capelli sulla fronte, arcate sopraorbitali piatte, telecanto, rime palpebrali oblique verso l'alto, ipoplasia mascellare, orecchie ruotate posteriormente, microsomia e micrognazia). Le radiografie evidenziano iperfalangia del pollice, dell'indice e del dito medio, con falangi marcatamente a forma di delta nelle dita e negli alluci interessati."},"nl":{"name":"Hyperfalangie van vingers - teenanomalieën - ernstige pectus excavatum-syndroom","definition":"Hyperfalangie van vingers - teenanomalieën - ernstige pectus excavatum-syndroom is een zeldzaam, genetisch, congenitaal syndroom met malformatie van ledematen, en wordt gekarakteriseerd door bilateraal korte en brede duimen, korte en afwijkende wijsvingers, clinodactylie van de vijfde vingers, brede halluces in valgusstand en lateraal afwijkende, overlappende tweede teen, geassocieerd met ernstige pectus excavatum en craniofaciale dysmorfie (met onder meer brachycefalie, lage voorste haarlijn, platte supraorbitale randen, telecanthus, opwaarts hellende ooglidspleten, maxillaire hypoplasie, naar achteren gedraaide oren, microsomie en micrognathie). Radiologische bevindingen zijn onder meer hyperfalangie van duim, wijs- en middenvinger, met ernstig deltavormige falangen in getroffen vingers en halluces."},"pt":{"name":"Síndrome de hiperfalangismo – anomalias dos pés – pectus escavado grave"},"pl":{"name":"Zespół hiperfalangia palców-wady palców stóp-zaawansowana klatka piersiowa lejkowata"},"cs":{"name":"Syndrom zahrnující hyperfalangii prstů ruky, anomálie prstů nohy a těžký pectus excavatum"},"uk":{"name":"Синдром гіперфалангії пальців кисті-аномалії пальців стопи-тяжкий pectus excavatum","definition":"A rare, genetic, congenital limb malformation syndrome characterized by bilateral short broad thumbs, short deviated index fingers, clinodactyly of the fifth fingers, broad, valgus-deviated halluces and laterally-deviated, overlapping second toe, associated with severe pectus excavatum and craniofacial dysmorphism (including brachycephaly, low anterior hairline, flat supraorbital ridges, telecanthus, upslanting palpebral fissures, maxillary hypoplasia, posteriorly rotated ears, microsomia and micrognathia). Radiological findings include thumb, index, and middle finger hyperphalangy, with severe delta phalanxes in affected fingers and halluces."},"zh":{"name":"多指畸形-脚趾异常-严重漏斗胸综合征","definition":"多指-脚趾异常-严重漏斗胸综合征是一种罕见的遗传性先天性肢体畸形综合征，其特征为双侧短粗拇指、短偏斜食指、第五指弯曲、大拇趾宽大外翻畸形和第二趾侧向偏斜重叠，伴有严重的漏斗胸和颅面畸形(包括平头畸形、低前发际线、眶上嵴平坦、内眦距过宽、睑裂上斜、上颌发育不良、耳后旋、矮小和小颌畸形)。放射学发现包括拇指、食指和中指多指，受累手指和拇趾呈严重的delta指/趾骨。"},"tr":{"name":"Parmak hiperfalanjisi-ayak parmak anomalileri-ağır pektus ekskavatum sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q87.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018249","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190599","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":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"23824731[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}