{"orpha":168454,"name":"NANS-CDG","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SEMD, Geneviève type","SEMDG","N-acetylneuraminic acid-9-phosphate synthase deficiency","Spondyloepimetaphyseal dysplasia Camera-Genevieve type","Spondyloepimetaphyseal dysplasia, Geneviève type"],"definition":"Spondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-168454/","orphanet_url":"https://www.orpha.net/en/disease/detail/168454","names":{"fr":{"name":"NANS-CDG","synonyms":["SEMD type Geneviève","SEMDG","Déficit en N-acétylneuraminique acide-9-phosphate synthase","Dysplasie spondylo-épimétaphysaire type Camera-Genevieve","Dysplasie spondylo-épimétaphysaire type Geneviève"],"definition":"Dysplasie osseuse primaire rare caractérisée par un retard de développement et une dysplasie squelettique sévères (petite taille, ossification prématurée des os du carpe, platyspondylie, stries métaphysaires longitudinales et épiphyses de petite taille), ainsi qu'une déficience intellectuelle modérée à sévère et une dysmorphie faciale à type de front proéminent, de légère synophridie, de pont nasal déprimé, de pointe nasale bulbeuse et proéminente et de lèvres charnues."},"de":{"name":"NANS-CDG","synonyms":["SEMD Typ Geneviève","SEMDG","Kongenitale Glykosylierungsstörung durch N-Acetylneuraminsäure-9-phosphat-Synthase-Mangel","Dysplasie, spondyloepimetaphysäre, Typ Geneviève"]},"es":{"name":"NANS-CDG","synonyms":["Deficiencia de ácido N-acetilneuramínico-9-fosfato sintasa","Displasia espondiloepimetafisaria tipo Camera-Genevieve","Displasia espondiloepimetafisaria tipo Geneviève","SEMD, tipo Geneviève","SEMDG"],"definition":"La displasia espondiloepimetafisaria tipo Geneviève, es una displasia ósea primaria poco frecuente, caracterizada por retraso grave del desarrollo y displasia esquelética (incluye talla baja, osificación prematura de huesos del carpo, platispondilia, estrías longitudinales metafisarias, y epífisis pequeñas), así como discapacidad intelectual de moderada a grave, y dismorfia facial que incluye frente prominente, leve sinofridia, puente nasal deprimido, punta nasal bulbosa y prominente y labios carnosos."},"it":{"name":"NANS-CDG","synonyms":["Displasia spondiloepimetafisaria tipo Camera-Genevieve","Deficit di acido N-acetilneuraminico-9-fosfato sintasi","Displasia spondiloepimetafisaria, tipo Genevieve","SEMDG","SEMD, tipo Geneviève"],"definition":"La displasia spondiloepimetafisaria tipo Geneviève è una displasia scheletrica primitiva rara, caratterizzata da grave ritardo dello sviluppo, displasia scheletrica (bassa statura, ossificazione prematura dei carpi, platispondilia, metafisi con striature longitudinali ed epifisi piccole), disabilità intellettiva moderata-grave e dismorfismi facciali, che comprendono la fronte prominente, la lieve sinofria, la sella del naso infossata, la punta del naso globosa e prominente e le labbra carnose."},"nl":{"name":"NANS-CDG","synonyms":["Deficiëntie van N-acetylneuraminezuur-9-fosfaat-synthase","Spondylo-epimetafysaire dysplasie, Camera-Geneviève-type","Spondylo-epimetafysaire dysplasie, Geneviève-type","SEMD, Geneviève-type","SEMDG"],"definition":"Spondylo-epimetafysaire dysplasie, Geneviève-type is een zeldzame primaire botdysplasie die gekarakteriseerd wordt door ernstige ontwikkelingsachterstand en skeletdysplasie (met onder meer kleine gestalte, premature ossificatie van carpalen, platyspondylie, longitudinale metafysaire striaties, en kleine epifysen), alsook matige tot ernstige intellectuele achterstand en faciale dysmorfie, waaronder een prominent voorhoofd, milde synophrys, ingezakte neusbrug, prominente bolle neuspunt en volle lippen."},"pt":{"name":"Displasia espondiloepimetafisária, tipo Genevieve"},"pl":{"name":"Dysplazja kręgowo-nasadowo-przynasadowa, typ Geneviève","synonyms":["SEMD, Geneviève type","SEMDG","N-acetylneuraminic acid-9-phosphate synthase deficiency","Spondyloepimetaphyseal dysplasia Camera-Genevieve type","Spondyloepimetaphyseal dysplasia, Geneviève type"],"definition":"*Dysplazja kręgowo-nasadowo-przynasadowa typu Geneviève jest rzadką pierwotną dysplazją kostną, która charakteryzuje się ciężkim opóźnieniem rozwoju i dysplazją szkieletową (niski wzrost, przedwczesne kostnienie kości nadgarstka, płaskie trzony kręgowe, podłużne prążkowanie w przynasadach oraz małe nasady), a także umiarkowaną lub ciężką niepełnosprawnością intelektualną i dysmorfią twarzy, która obejmuje wydatne czoło, łagodne zrośnięcie przyśrodkowych części brwi, zapadnięty grzbiet nosa, wydatny bulwiasty czubek nosa i pełne usta."},"cs":{"name":"Spondyloepimetafyzární dysplázie, Genevieveho typ","synonyms":["SEMD, Geneviève type","SEMDG","N-acetylneuraminic acid-9-phosphate synthase deficiency","Spondyloepimetaphyseal dysplasia Camera-Genevieve type","Spondyloepimetaphyseal dysplasia, Geneviève type"]},"uk":{"name":"Спондилоепіметафізарна дисплазія, тип Женевєва","synonyms":["SEMD, тип Женевєва","SEMDG"],"definition":"Spondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips."},"zh":{"name":"GeneviÞve 型脊柱干骺端发育不良","synonyms":["Geneviève型SEMD"],"definition":"Genevieve型脊椎骨骺发育不良是一种罕见的原发性骨发育异常 ，其主要临床表现为严重发育迟缓、骨骼发育不良（包括身材矮小、腕骨过早骨化、扁平椎骨、干骺端纵向纹理和骨骺小）、严重智力障碍和面部畸形，包括额头突出、轻度连眉、鼻梁扁平、球形鼻尖、厚嘴唇。"},"tr":{"name":"Spondiloepimetafizyaldisplazi, GeneviÞve tipi","synonyms":["SEMDG","SEMD, Geneviève tipi"]}},"xrefs":[{"source":"OMIM","code":"610442","qualifier":"E","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":"1383217537"},{"source":"MONDO","code":"0012495","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535785","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1864872","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10057","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":"NANS","name":"N-acetylneuraminate synthase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"27213289[PMID]","hgnc":"19237","ensembl":"ENSG00000095380","omim":"605202","loci":["9q22.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"27213289[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27213289[PMID]"}],"phenotypes":null}