{"orpha":178355,"name":"Smith-McCort dysplasia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Smith-McCort dysplasia (SMC) is a rare spondylo-epi-metaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalized platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome (DMC), but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-178355/","orphanet_url":"https://www.orpha.net/en/disease/detail/178355","names":{"fr":{"name":"Dysplasie de Smith-McCort","definition":"Dysplasie spondylo-épimétaphysaire rare caractérisée par des manifestations cliniques à type de faciès grossier, de cou court, de nanisme à tronc court avec un thorax en tonneau et de raccourcissement rhizomélique des membres, ainsi que par des signes radiologiques caractéristiques (platyspondylie généralisée avec des plateaux vertébraux à double bosse et des crêtes iliaques dont l'aspect rappelle celui de la dentelle) et par une intelligence normale. Les signes cliniques et squelettiques sont similaires à ceux caractéristiques du syndrome de Dyggve-Melchior-Clausen (DMC), mais s'en distinguent par l'absence de déficience intellectuelle et de microcéphalie."},"de":{"name":"Smith-McCort-Dysplasie"},"es":{"name":"Displasia de Smith-McCort","definition":"Es una displasia espondilo-epi-metafisaria poco frecuente caracterizada por las siguientes manifestaciones clínicas: facies tosca, cuello corto, talla baja de tronco corto con tórax en tonel y acortamiento rizomélico de las extremidades, así como características radiológicas específicas (es decir, platispondilia generalizada con ''doble joroba'' de los cuerpos vertebrales y crestas ilíacas festoneadas) e inteligencia normal. Las características clínicas y esqueléticas son similares a las observadas en el trastorno alélico del síndrome de Dyggve-Melchior-Clausen (DMC), pero se pueden distinguir de éste por la ausencia de discapacidad intelectual y microcefalia."},"it":{"name":"Displasia di Smith-McCort","definition":"La displasia di Smith-McCort (SMC) è una displasia spondilo-epi-metafisaria rara. I segni clinici comprendono i lineamenti del viso grossolani, il collo corto, il nanismo con tronco corto e torace a botte e l'accorciamento rizomelico degli arti, associati a segni radiologici caratteristici (platispondilia generalizzata con piatti vertebrali a doppia gobba e creste iliache dall'aspetto simile ad un pizzo). L'intelligenza è normale. I segni clinici e scheletrici sono simili a quelli caratteristici della malattia allelica di Dyggve-Melchior-Clausen (DMC; si veda questo termine), ma se ne differenzia per l'assenza di deficit intellettivo e della microcefalia."},"nl":{"name":"Dysplasie van Smith-McCort","definition":"Dysplasie van Smith-McCort (SMC) is een zeldzame spondylo-epimetafysaire dysplasie die gekarakteriseerd wordt door de volgende klinische manifestaties: ruw gelaat, korte nek/hals, dwerggroei met korte romp, tonvormige borst en rhizomele verkorting van ledematen, specifieke radiologische kenmerken (i.e. gegeneraliseerde platyspondylie met vertebrale eindplaten met dubbele bult en bekkenkam met gekarteld uiterlijk) en normale intelligentie. De klinische en skeletale kenmerken zijn gelijkaardig aan die van de allelische stoornis syndroom van Dyggve-Melchior-Clausen (DMC; zie deze term), maar onderscheid met dit syndroom kan gemaakt worden op basis van de afwezigheid van intellectuele deficiëntie en microcefalie bij SMC."},"pt":{"name":"Displasia de Smith-McCort"},"pl":{"name":"Dysplazja Smitha i McCorta"},"cs":{"name":"Smithova-McCortova dysplázie","synonyms":["Smith-McCortova dysplázie"]},"uk":{"name":"Дисплазія Сміта-МакКорта","definition":"Smith-McCort dysplasia (SMC) is a rare spondylo-epi-metaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalized platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome (DMC; see this term), but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC."},"zh":{"name":"Smith-McCort 发育不良","definition":"Smith-McCort发育不良（SMC）是一种少见的脊椎上干骺端发育不良，临床表现为面容粗糙、颈部短、短躯干型侏儒、桶状胸、四肢近端短小和特异性的影像学表现（i.e.椎骨普遍扁平，椎体终板呈双峰状，髂骨嵴呈花边状），但智力正常。其临床表现和骨骼特征与Dyggve-Melchior-Clausen综合征（DMC；见该术语）相似，但可通过智力障碍和小头畸形进行区别。"},"tr":{"name":"Smith-McCort displazisi"}},"xrefs":[{"source":"OMIM","code":"607326","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615222","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1800275830"},{"source":"MONDO","code":"0015799","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564589","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1846431","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10620","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":253,"name":"Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"DYM","name":"dymeclin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"15464420[PMID]_12491225[PMID]","hgnc":"21317","ensembl":"ENSG00000141627","omim":"607461","loci":["18q21.1"]},{"symbol":"RAB33B","name":"RAB33B, member RAS oncogene family","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22652534[PMID]","hgnc":"16075","ensembl":"ENSG00000172007","omim":"605950","loci":["4q31.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":16.0,"area":"Worldwide","status":"Validated","source":"23042644[PMID]_28127940[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28127940[PMID]"}],"phenotypes":null}