{"orpha":988,"name":"Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Absent tibia-polydactyly syndrome","Werner mesomelic spectrum"],"definition":"Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-988/","orphanet_url":"https://www.orpha.net/en/disease/detail/988","names":{"fr":{"name":"Syndrome d'hémimélie tibiale-polysyndactylie-pouce triphalangé","synonyms":["Spectre mésomélique de Werner","Syndrome d'agénésie tibiale-polydactylie"],"definition":"Un syndrome génétique rare de dysostose avec une variation interfamiliale et intrafamiliale très prononcée. Il se caractérise habituellement par des pouces triphalangés, une polysyndactylie au niveau des mains et/ou des pieds, et/ou un tibia hypoplasique/absent (associé à une duplication de la fibula dans certains cas). Des pouces triphalangés isolés ont aussi été rapportés. Une petite taille prononcée est souvent associée, et les signes additionnels peuvent inclure une synostose radio-ulnaire et une oligodactylie au niveau des mains, ainsi que des anomalies des os carpiens et métatarsiens."},"de":{"name":"Tibia-Hemimelie-Polysyndaktylie-triphalangealer Daumen-Syndrom","synonyms":["Tibia-Agenesie-Polysyndaktylie-Syndrom","Tibia-Aplasie-Polysyndaktylie-Syndrom","Werner mesomeles Spektrum"],"definition":"Ein seltenes, genetisch bedingtes Dysostose-Syndrom mit ausgeprägter inter- und intrafamiliärer Variabilität, das typischerweise durch triphalangeale Daumen, Polysyndaktylie der Hand und/oder des Fußes und/oder fehlende/hypoplastische Tibia (in einigen Fällen in Verbindung mit Duplikation der Fibula) gekennzeichnet ist, obwohl auch isolierte triphalangeale Daumen berichtet wurden. Häufig liegt eine ausgeprägte Kleinwüchsigkeit vor. Weitere beschriebene Merkmale sind Radioulnar-Synostose und Oligodaktylie der Hand sowie Anomalien der Handwurzel- und Mittelfußknochen."},"es":{"name":"Síndrome de hemimelia tibial-polisindactilia-pulgar trifalángico","synonyms":["Espectro mesomélico de Werner","Síndrome de tibia ausente-polidactilia"],"definition":"El síndrome de hemimelia tibial - polisindactilia - pulgar trifalángico es un síndrome genético de disostosis poco frecuente, con una marcada variación inter- e intrafamiliar, caracterizada típicamente por pulgares trifalángicos, polisindactilia en manos y/o pies, y/o tibia ausente/hipoplásica (asociada en algunos casos a la duplicación de las fíbulas), aunque también se han descrito pulgares trifalángicos aislados. A menudo, se acompaña de una talla baja notable y otras características adicionales que pueden incluir sinostosis radiocubital y oligodactilia en las manos, así como huesos carpianos y metatarsianos anómalos."},"it":{"name":"Sindrome da emimelia tibiale - polisindattilia - pollici trifalangei","synonyms":["Sindrome aplasia della tibia – polidattilia","Spettro mesomelico di Werner"],"definition":"La sindrome da emimelia tibiale, polisindattilia e pollici trifalangei è una malattia rara disostosica di origine genetica, con marcata variabilità inter- ed intra-familiare. È caratterizzata da pollici trifalangei, polisindattilia delle mani e/o dei piedi e/o aplasia/ipoplasia tibiale (associata, in alcuni pazienti, alla duplicazione dei peroni). Sono stati descritti pazienti con pollici trifalangei isolati. Spesso la statura è significativamente bassa e possono coesistere altri segni clinici, come la sinostosi radio-ulnare, l'oligodattilia delle mani e le anomalie delle ossa del carpo e del metatarso."},"nl":{"name":"Hemimelie van tibia - polysyndactylie - trifalangeale duim-syndroom","synonyms":["Afwezig scheenbeen - polydactylie-syndroom","Mesomeel spectrum van Werner"],"definition":"Tibiale hemimelie - polysyndactylie - trifalangeale duim-syndroom is een zeldzaam, genetisch dysostose syndroom met duidelijke inter- en intrafamiliale variatie, en wordt typisch gekarakteriseerd door trifalangeale duimen, polysyndactylie aan de hand en/of voet, en/of afwezige/hypoplastische tibiae (in sommige gevallen geassocieerd met duplicatie van fibulae), hoewel geïsoleerde trifalangeale duimen ook reeds werden gerapporteerd. Vaak gaat de ziekte ook gepaard met een opmerkelijke kleine gestalte en mogelijke bijkomende kenmerken zijn onder meer radio-ulnaire synostose en oligodactylie aan de hand, alsook abnormale carpalen en metatarsalen."},"pt":{"name":"Síndrome de hemimélia tibial-polissindactilia-polegar trifalângico","synonyms":["Espectro mesomélico Werner","Síndrome de tíbia ausente-polidactilia"]},"pl":{"name":"Brak kości piszczelowej - polidaktylia","synonyms":["Zespół hemimelii piszczelowej, polisyndaktylii i kciuka trójpaliczkowego"]},"cs":{"name":"Syndrom zahrnující hemimelii, polysyndaktylii a trifalangeální palec","synonyms":["Absent tibia-polydactyly syndrome","Werner mesomelic spectrum"]},"uk":{"name":"Синдром великогомілкової гемімелії-полісиндактилії-трифалангового великого пальця","synonyms":["Синдром відсутності великогомілкової кістки-полідактилії","Вернерівський мезомелічний спектр"],"definition":"Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones."},"zh":{"name":"胫侧半肢畸形-多并指（趾）-拇指三节指骨综合征","synonyms":["胫骨缺如-多指畸形综合征"]},"tr":{"name":"Tibial hemimeli-polisindaktili-trifalanjiyal başparmak sendromu","synonyms":["Tibianın olmadığı polidaktili sendromu"]}},"xrefs":[{"source":"OMIM","code":"188740","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"190605","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008572","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"8572","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535564","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707180","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8309","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":2950,"name":"Triphalangeal thumb-polysyndactyly syndrome","status":"inactive"},{"type":"Moved to","orpha":3332,"name":"Hypoplastic tibiae-postaxial polydactyly syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":404574,"name":"Genetic syndrome with limb reduction defects","classifications":[156]},{"orpha":294955,"name":"Syndrome with limb reduction defects","classifications":[147,199]}],"children":[],"genes":[{"symbol":"LMBR1","name":"limb development membrane protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19847792[PMID]","hgnc":"13243","ensembl":"ENSG00000105983","omim":"605522","loci":["7q36.3"]},{"symbol":"SHH","name":"sonic hedgehog signaling molecule","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9600232[PMID]","hgnc":"10848","ensembl":"ENSG00000164690","omim":"600725","loci":["7q36.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":94.0,"area":"Worldwide","status":"Validated","source":"10869115[PMID]_2333896[PMID]_39273297[PMID]_24965254[PMID]_24478176[PMID]_24777739[PMID]_2837505[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"10869115[PMID]_2333896[PMID]_39273297[PMID]_24965254[PMID]_24478176[PMID]_24777739[PMID]_2837505[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002991","label":"Abnormal fibula morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005772","label":"Aplasia/Hypoplasia of the tibia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006443","label":"Patellar aplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009601","label":"Aplasia/Hypoplasia of the thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005048","label":"Synostosis of carpal bones","frequency":"Frequent (79-30%)","criteria":null}]}}