{"orpha":66518,"name":"Short fifth metacarpals-insulin resistance syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic disease characterized by the association of unilateral or bilateral short fifth metacarpals (defined as a gap of 2 mm or more between the distal end of the fifth metacarpal bone and a tangential line connecting the distal ends of the third and fourth metacarpals), insulin resistance, and spherocytosis. Familial short stature has not been reported as part of the syndrome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-66518/","orphanet_url":"https://www.orpha.net/en/disease/detail/66518","names":{"fr":{"name":"Syndrome de résistance à l'insuline-cinquièmes métacarpiens courts","definition":"Maladie génétique rare caractérisée par l'association de 5<sup>e</sup> métacarpiens courts unilatéraux ou bilatéraux (définis par un écart d'au moins 2 mm entre la partie distale du 5<sup>e</sup> métacarpien et une ligne tangente reliant les parties distales du 3<sup>e</sup> et 4<sup>e</sup> métacarpiens), d'une résistance à l'insuline et d'une sphérocytose. Une petite taille d'origine familiale n'a jamais été rapportée dans le cadre de ce syndrome."},"de":{"name":"Kurzer fünfter Mittelhandknochen-Insulinresistenz-Syndrom","definition":"Eine seltene genetische Erkrankung, die durch die Assoziation von ein- oder beidseitig kurzen fünften Mittelhandknochen (definiert als eine Lücke von 2 mm oder mehr zwischen dem distalen Ende des fünften Mittelhandknochens und einer tangentialen Linie, die die distalen Enden des dritten und vierten Mittelhandknochens verbindet), Insulinresistenz und Sphärozytose gekennzeichnet ist. Familiäre Kleinwüchsigkeit wurde nicht als Teil des Syndroms berichtet."},"es":{"name":"Síndrome de quintos metacarpianos cortos-resistencia a la insulina","definition":"Es una enfermedad de base genética poco frecuente caracterizada por la asociación de acortamiento uni- o bilateral del quinto metacarpiano (definida como un espacio de 2 mm o más entre el extremo distal del quinto hueso metacarpiano y una línea tangencial que conecta los extremos distales del tercer y cuarto metacarpianos), resistencia a la insulina y esferocitosis. La talla baja familiar no se ha descrito como parte del síndrome."},"it":{"name":"Sindrome quinto metacarpo corto-resistenza all'insulina","definition":"Si tratta di una malattia genetica rara caratterizzata dall'accorciamento mono- o bilaterale del quinto metacarpo (con una distanza di almeno 2 mm tra l'estremità distale del quinto metacarpo e una linea tangenziale che collega le estremità distali del terzo e del quarto metacarpo), resistenza all'insulina e sferocitosi. La bassa statura familiare non fa parte della malattia."},"nl":{"name":"Korte vijfde metacarpalen - insulineresistentie-syndroom","definition":"Een zeldzame, genetische aandoening, gekarakteriseerd door de associatie van unilaterale of bilaterale korte vijfde metacarpalen (gedefinieerd als een ruimte van 2 mm of meer tussen het distale uiteinde van vijfde metacarpus en een tangentiële lijn die de distale uiteinden van derde en vierde metacarpalen verbindt), insulineresistentie, en sferocytose. Familiale kleine gestalte werd niet gerapporteerd als onderdeel van dit syndroom."},"pt":{"name":"Resistência à insulina - quintos metacarpianos curtos"},"pl":{"name":"Skrócone piąte kości śródręcza - insulinooporność"},"cs":{"name":"Syndrom zahrnující zkrácený pátý metakarp a inzulinovou rezistenci"},"uk":{"name":"Синдром коротких пятих пясткових кісток-інсулінорезистентності","definition":"A rare genetic disease characterized by the association of unilateral or bilateral short fifth metacarpals (defined as a gap of 2 mm or more between the distal end of the fifth metacarpal bone and a tangential line connecting the distal ends of the third and fourth metacarpals), insulin resistance, and spherocytosis. Familial short stature has not been reported as part of the syndrome."},"zh":{"name":"胰岛素抵抗综合征伴第五掌骨短小"},"tr":{"name":"Kısa beşinci metakarpal-insülin direnci sendromu"}},"xrefs":[{"source":"ICD-10","code":"E14.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A44","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1832210902"},{"source":"MONDO","code":"0019017","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303621","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":181368,"name":"Rare insulin-resistance syndrome","classifications":[156,193]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"16132981[PMID]_12786688[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-04-20","source":"16132981[PMID]","terms":[{"hpo":"HP:0000842","label":"Hyperinsulinemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001742","label":"Nasal congestion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010047","label":"Short 5th metacarpal","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004444","label":"Spherocytosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Very frequent (99-80%)","criteria":null}]}}