{"orpha":93347,"name":"Anauxetic dysplasia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Spondyloepimetaphyseal dysplasia, Menger type","Spondyloepimetaphyseal dysplasia, anauxetic type"],"definition":"A rare spondyloepimetaphyseal dysplasia characterized by severe short-limb short stature beginning prenatally, joint hypermobility, dental abnormalities, dysmorphic facial features (including hypertelorism, midface hypoplasia, macroglossia, and prognathism), and other skeletal anomalies (such as atlantoaxial subluxation causing compression of the spinal cord, kyphoscoliosis, hip dislocation, or rocker-bottom feet). Mild intellectual disability may also be present.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93347/","orphanet_url":"https://www.orpha.net/en/disease/detail/93347","names":{"fr":{"name":"Dysplasie anauxétique","synonyms":["Dysplasie spondylo-épimétaphysaire de Menger","Dysplasie spondylo-épimétaphysaire type anauxétique"],"definition":"Dysplasie spondylo-épimétaphysaire rare débutant avant la naissance caractérisée par un retard structural sévère se traduisant par une petite taille, des membres courts, une hypermobilité articulaire, des malformations dentaires, une dysmorphie faciale (hypertélorisme, hypoplasie du massif facial médian, macroglossie et prognathisme) et d'autres malformations squelettiques (telles que la subluxation atlantoaxiale à l'origine de la compression de la moelle épinière, la cyphoscoliose, la luxation de la hanche ou le pied convexe congénital). On peut observer une déficience intellectuelle légère."},"de":{"name":"Dysplasie, anauxetische","synonyms":["Dysplasie, spondyloepimetaphysäre, Typ Menger","Dysplasie, spondyloepimetaphysäre, anauxetischer Typ"],"definition":"Eine seltene spondyloepimetaphysäre Dysplasie, die durch eine schwere, pränatal beginnende Kleinwüchsigkeit, Gelenkhypermobilität, Zahnanomalien, dysmorphe Gesichtsmerkmale (einschließlich Hypertelorismus, Mittelgesichtshypoplasie, Makroglossie und Progenie) und andere Skelettanomalien (wie atlanto-axiale Subluxation, die eine Kompression des Rückenmarks verursacht, Kyphoskoliose, Hüftluxation oder Schaukelfuß) gekennzeichnet ist. Auch eine leichte Intelligenzminderung kann vorhanden sein."},"es":{"name":"Displasia anauxética","synonyms":["Displasia espondiloepimetafisaria tipo Menger","Displasia espondiloepimetafisaria tipo anauxética"],"definition":"Es una displasia espondiloepimetafisaria poco frecuente caracterizada por talla baja grave de miembros cortos de inicio en la etapa prenatal, hipermovilidad articular, anomalías dentales, rasgos faciales dismórficos (incluyendo hipertelorismo, hipoplasia del tercio medio facial, macroglosia y prognatismo) y otras anomalías esqueléticas (como subluxación atlantoaxial que causa compresión de la médula espinal, cifoescoliosis, luxación de cadera o pies en mecedora). También puede ir acompañada de discapacidad intelectual leve."},"it":{"name":"Displasia anauxetica","synonyms":["Displasia spondiloepimetafisaria, tipo Menger","Displasia spondiloepimetafisaria, tipo anauxetico"],"definition":"Si tratta di una displasia spondiloepimetafisaria rara, caratterizzata da bassa statura grave con arti corti ad esordio prenatale, ipermobilità articolare, anomalie dei denti, dismorfismi facciali (ipertelorismo, ipoplasia medio-facciale, macroglossia e prognatismo) e altre anomalie scheletriche (sublussazione atlanto-assiale che causa la compressione del midollo spinale, cifoscoliosi, dislocazione dell'anca e piede ''a piccozza''). Può associarsi a lieve disabilità intellettiva."},"nl":{"name":"Anauxetische dysplasie","synonyms":["Spondylo-epimetafysaire dysplasie, Menger-type","Spondylo-epimetafysaire dysplasie, anauxetisch type"],"definition":"Een zeldzame spondylo-epimetafysaire dysplasie, gekarakteriseerd door ernstige kleine gestalte met korte ledematen die prenataal begint, gewrichtshypermobiliteit, dentale anomalieen, dysmorfe gelaatskenmerken (met onder meer hypertelorisme, hypoplasie van middengezicht, macroglossie, en prognathie), en andere skeletanomalieën (zoals atlanto-axiale subluxatie die compressie van ruggenmerg veroorzaakt, kyfoscoliose, luxatie van heup, of talus verticalis). Milde intellectuele achterstand kan ook aanwezig zijn."},"pt":{"name":"Displasia anauxética"},"pl":{"name":"Dysplazja kręgowo-nasadowo-przynasadowa typu Mengera","synonyms":["Spondyloepimetaphyseal dysplasia, anauxetic type","Spondyloepimetaphyseal dysplasia, Menger type"]},"cs":{"name":"Anauxetická dysplázie","synonyms":["Spondyloepimetafyzární dysplázie, anauxetický typ","Spondyloepimetafyzární dysplázie, Mengerův typ"]},"uk":{"name":"Анаеробна дисплазія","synonyms":["Спондилоепіметафізарна дисплазія, анаеробний тип","Спондилоепіметафізарна дисплазія, тип Менгера"],"definition":"A rare spondyloepimetaphyseal dysplasia characterized by severe short-limb short stature beginning prenatally, joint hypermobility, dental abnormalities, dysmorphic facial features (including hypertelorism, midface hypoplasia, macroglossia, and prognathism), and other skeletal anomalies (such as atlantoaxial subluxation causing compression of the spinal cord, kyphoscoliosis, hip dislocation, or rocker-bottom feet). Mild intellectual disability may also be present."},"zh":{"name":"Anauxetic发育不良","synonyms":["脊椎干骺端发育不良，无刺激型"]},"tr":{"name":"Aneuksotik displazi","synonyms":["Spondiloepimetafizyal displazi, Menger tipi","Spondiloepimetafizyal displazi, anoksetik tip"]}},"xrefs":[{"source":"OMIM","code":"607095","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617396","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618853","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":"1897630209"},{"source":"MONDO","code":"0011773","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538256","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1846796","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9657","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":"POP1","name":"POP1 ribonuclease P/MRP subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"21455487[PMID]","hgnc":"30129","ensembl":"ENSG00000104356","omim":"602486","loci":["8q22.2"]},{"symbol":"RMP64","name":"ribonuclease MRP subunit p64","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31250547[PMID]","hgnc":"24496","ensembl":"ENSG00000163608","omim":"617089","loci":["3q13.2"]},{"symbol":"RMRP","name":"RNA component of mitochondrial RNA processing endoribonuclease","gene_type":"Non-coding RNA","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22420014[PMID]","hgnc":"10031","ensembl":"ENSG00000277027","omim":"157660","loci":["9p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"27380734[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27380734[PMID]"}],"phenotypes":null}