{"orpha":397623,"name":"Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["SAMS syndrome"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, conductive hearing loss due to bilateral auditory canal atresia, mandibular hypoplasia and multiple skeletal abnormalities, including bilateral humeral hypoplasia, humeroscapular synostosis, delayed pubis rami ossification, central dislocation of the hips, and proximal femora defects, as well as bilateral talipes equinovarus, proximally implanted thumbs and lumbar hyperlordosis. Associated craniofacial dysmorphism includes micro/scaphocephaly, malar hypoplasia, high-arched palate, and simple, dysplastic pinnae with prearicular pits/tags.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-397623/","orphanet_url":"https://www.orpha.net/en/disease/detail/397623","names":{"fr":{"name":"Syndrome de petite taille-atrésie du canal auditif-hypoplasie mandibulaire-anomalies squelettiques","synonyms":["Syndrome SAMS"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare d'origine génétique caractérisé par une petite taille, une surdité de transmission due à une atrésie bilatérale du canal auditif, une hypoplasie mandibulaire et de multiples anomalies squelettiques, dont une hypoplasie humérale bilatérale, une synostose scapulo-humérale, un retard d'ossification de la branche pubienne, une luxation centrale de la hanche et des anomalies de l'extrémité proximale du fémur, ainsi qu'un pied bot varus équin bilatéral, des pouces implantés de manière proximale et une hyperlordose lombaire. La dysmorphie craniofaciale associée se traduit par une microcéphalie/scaphocéphalie, une hypoplasie malaire, un palais ogival et des pavillons d'oreille dysplasiques avec des fibrochondromes/sinus préauriculaires."},"de":{"name":"Kleinwuchs-Hörkanalatresie-Mandibuläre Hypoplasie-Skelettanomalien-Syndrom","synonyms":["SAMS-Syndrom"],"definition":"Das Kleinwuchs-Hörkanalatresie-Mandibuläre Hypoplasie-Skelettanomalien-Syndrom ist ein seltenes, genetisches Dysmorphie-Syndrom mit multiplen kongenitalen Anomalien. Es ist gekennzeichnet durch Kleinwuchs, eine Schalleitungsschwerhörigkeit aufgrund bilateraler Gehörgangatresie, Unterkieferhypoplasie und multiplen Skelettanomalien, einschließlich bilateraler Humerushypoplasie, skapulohumerale Synostose, verzögerter Schambeinverknöcherung, zentraler Versetzung der Hüften und proximaler Femurdefekte, sowie bilateraler Talipes equinovarus, proximal implantierter Daumen und lumbaler Hyperlordose. Die damit verbundene kraniofaziale Dysmorphie umfasst Mikro/Skaphozephalie, Malarhypoplasie, hochgewölbten Gaumen und einfache, dysplastische Pinnae mit präaurikulären Ohrgrübchen."},"es":{"name":"Síndrome de talla baja-atresia del conducto auditivo-hipoplasia mandibular-anomalías esqueléticas","synonyms":["Síndrome SAMS"],"definition":"El síndrome de talla baja - atresia del conducto auditivo - hipoplasia mandibular - anomalías esqueléticas es un síndrome dismórfico / por múltiples anomalías congénitas, genético y poco frecuente. Está caracterizado por talla baja, pérdida auditiva conductiva debida a atresia bilateral del canal auditivo, hipoplasia mandibular y anomalías esqueléticas múltiples, que incluyen hipoplasia bilateral humeral, sinostosis escapulohumeral, retraso en la osificación del pubis, luxación central de cadera y defectos del fémur proximal, así como talipes equinovarus bilaterales, pulgares implantados proximalmente e hiperlordosis lumbar. La dismorfia craneofacial asociada incluye micro / escafocefalia, hipoplasia malar, paladar ojival y pabellón de la oreja displásico, simple, con fositas / apéndices preariculares."},"it":{"name":"Sindrome da bassa statura, atresia del canale uditivo, ipoplasia mandibolare ed anomalie scheletriche","synonyms":["Sindrome SAMS"],"definition":"La sindrome che associa la bassa statura, l'atresia del canale uditivo, l'ipoplasia mandibolare e le anomalie scheletriche è una malattia genetica rara da anomalie/dismorfismi congeniti multipli, caratterizzata da bassa statura, sordità di conduzione secondaria all'atresia bilaterale del canale auricolare, ipoplasia mandibolare ed anomalie scheletriche multiple (ipoplasia bilaterale dell'omero, sinostosi omero-scapolare, ritardo dell'ossificazione dei rami del pube, dislocazione centrale delle anche, difetti dei femori prossimali), piedi equino-vari, pollici ad impianto prossimale ed iperlordosi lombare. I dismorfismi craniofacciali caratteristici comprendono la micro/scafocefalia, l'ipoplasia malare, il palato ogivale e i padiglioni auricolari displastici a disegno semplice, con fossette/appendici preauricolari."},"nl":{"name":"Kleine gestalte - gehoorgangatresie - mandibulaire hypoplasie - skeletanomalieën-syndroom","synonyms":["SAMS-syndroom"],"definition":"Kleine gestalte - gehoorgangatresie - mandibulaire hypoplasie - skeletanomalieën-syndroom is een zeldzaam, genetisch meervoudige congenitale anomalieën/dysmorfie-syndroom dat gekarakteriseerd wordt door kleine gestalte, conductief gehoorverlies door bilaterale gehoorgangatresie, mandibulaire hypoplasie en multipele skeletafwijkingen, waaronder bilaterale humerale hypoplasie, humeroscapulaire synostose, vertraagde ossificatie van de randen (rami) van het schaambeen, centrale dislocatie van de heupen, en proximale defecten van de dijbeenderen, alsook bilaterale talipes equinovarus, proximaal ingeplante duimen en lumbale hyperlordose. Geassocieerde craniofaciale dysmorfie omvat micro-/scafocefalie, hypoplasie van de jukbeenderen, hoog gebogen verhemelte, en eenvoudige, dysplastische oorschelpen met pre-auriculaire fistels/aanhangsels."},"pt":{"name":"Síndrome de baixa estatura-atresia do canal auditivo-hipoplasia mandibular-anomalias esqueléticas"},"pl":{"name":"Zespół niski wzrost - atrezja kanału słuchowego - hipoplazja żuchwy - wady układu kostnego","synonyms":["Zespół SAMS"],"definition":"*Zespół niski wzrost - atrezja kanału słuchowego - hipoplazja żuchwy - wady układu kostnego jest rzadkim, genetycznie uwarunkowanym zespołem mnogich wad wrodzonych/zespołem dysmorficznym, który charakteryzuje się niskim wzrostem, niedosłuchem przewodzeniowym wskutek obustronnego zarośnięcia przewodu słuchowego, niedorozwojem żuchwy i licznymi nieprawidłowościami kostnymi, takimi jak obustronna hipoplazji kości ramiennej, synostoza ramienno-łopatkowa, opóźnione kostnienie gałęzi kości łonowej, zwichnięcie stawów biodrowych i wady proksymalnego odcinka kości udowej, obustronne stopy końsko-szpotawe, proksymalnie osadzone kciuki i hiperlordoza lędźwiowa. Towarzysząca dysmorfia twarzoczaszki obejmuje mało/łódkogłowie, hipoplazję kości jarzmowych, wysokie podniebienie i dysplastyczne małżowiny uszne z przedusznymi dołkami/wyroślami."},"cs":{"name":"Syndrom zahrnující malý vzrůst, atrézii zvukovodu, mandibulární hypoplázii a anomálie skeletu","synonyms":["SAMS syndrom"]},"uk":{"name":"Синдром низькорослості-атрезії слухового проходу-гіпоплазії нижньої щелепи-скелетних аномалій","synonyms":["Синдром SAMS"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, conductive hearing loss due to bilateral auditory canal atresia, mandibular hypoplasia and multiple skeletal abnormalities, including bilateral humeral hypoplasia, humeroscapular synostosis, delayed pubis rami ossification, central dislocation of the hips, and proximal femora defects, as well as bilateral talipes equinovarus, proximally implanted thumbs and lumbar hyperlordosis. Associated craniofacial dysmorphism includes micro/scaphocephaly, malar hypoplasia, high-arched palate, and simple, dysplastic pinnae with prearicular pits/tags."},"zh":{"name":"身材矮小-听道闭锁-下颌骨发育不全-骨骼异常综合征","synonyms":["SAMS综合征"],"definition":"身材矮小-耳道闭锁-下颌发育不全-骨骼异常综合征是一种罕见的遗传性多发性先天性畸形/畸形综合征，其特征是身材矮小，双侧耳道闭锁导致传导性听力损失，下颌发育不良和多发性骨骼异常，包括双侧肱骨发育不良、肱骨肩关节融合、迟发性耻骨支骨化、髋关节中心脱位、股骨近端缺损，以及双侧马蹄内翻足。与之相关的颅面畸形包括微型/舟状头畸形、颧骨发育不全、高弓腭裂，以及单纯发育不良的耳廓伴有节前凹陷/标记。"},"tr":{"name":"Kısa boy-işitsel kanal atrezisi-mandibular hipoplazi-iskelet anomalileri sendromu","synonyms":["SAMS sendromu"]}},"xrefs":[{"source":"OMIM","code":"602471","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011227","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4751574","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":183570,"name":"Genetic malformation syndrome with short stature","classifications":[156]},{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":139021,"name":"Malformation syndrome with short stature","classifications":[147]},{"orpha":93438,"name":"Mesomelic and rhizo-mesomelic dysplasia","classifications":[147,156,199]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":156243,"name":"Pinnae and external auditory canal anomaly","classifications":[147,156,200]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[{"symbol":"GSC","name":"goosecoid homeobox","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24290375[PMID]","hgnc":"4612","ensembl":"ENSG00000133937","omim":"138890","loci":["14q32.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"24290375[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24290375[PMID]"}],"phenotypes":null}