{"orpha":2746,"name":"Opsismodysplasia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare skeletal dysplasia characterized by pre-or postnatal severe rhizomelic micromelia with short long bones (congenital dwarfism), extremely short feet and hands, major delay in skeletal ossification, metaphyseal cupping, severe platyspondyly, muscular hypotonia and facial dysmorphism (including macrocephaly, large anterior fontanelle, arched and prominent eyebrows, hypertelorism, exophthalmos, depressed nasal bridge, small anteverted nose with relatively broad nares, long philtrum and thin upper lip). Patients also present with short neck, narrow, bell-shaped thorax. Circumferential skin creases (especially in the upper arms, hands, and feet) and recurrent respiratory tract infections (that followed a fatal course in some cases) have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2746/","orphanet_url":"https://www.orpha.net/en/disease/detail/2746","names":{"fr":{"name":"Opsismodysplasie","definition":"Dysplasie squelettique rare caractérisée par une micromélie rhizomélique sévère pré- ou post-natale et un raccourcissement des os longs (nanisme congénital), des pieds et des mains extrêmement courts, un retard important dans l'ossification squelettique, un évasement métaphysaire, une platyspondylie sévère, une hypotonie musculaire et une dysmorphie faciale (de type macrocéphalie, fontanelle antérieure large, des sourcils arqués et proéminents, hypertélorisme, exophtalmie, pont nasal déprimé, petit nez antéversé avec narines relativement larges, long philtrum et lèvre supérieure fine). Les patients présentent également un cou court et un thorax étroit en forme de cloche. Des plis cutanés circonférentiels (en particulier au niveau des bras, des mains et des pieds) et des infections récurrentes des voies respiratoires (ayant entraîné le décès dans certains cas) ont également été rapportés."},"de":{"name":"Opsismodysplasie","definition":"Eine seltene Skelettdysplasie, die durch prä- oder postnatale schwere rhizomele Mikromelie mit kurzen Röhrenknochen (angeborener Kleinwuchs), extrem kurzen Füßen und Händen, stark verzögerter Skelettverknöcherung, metaphysärer Wölbung, schwerer Platyspondylie, Muskelhypotonie und Gesichtsdysmorphie (einschließlich Makrozephalie, großer vorderer Fontanelle, gewölbten und hervorstehenden Augenbrauen, Hypertelorismus, Exophthalmus, flache Nasenwurzel, kleine antevertierte Nase mit relativ breiten Nasenlöchern, langes Philtrum und dünne Oberlippe). Die Patienten weisen außerdem einen kurzen Hals und einen schmalen, glockenförmigen Brustkorb auf. Es wurde auch über zirkuläre Hautfalten (insbesondere an den Oberarmen, Händen und Füßen) und wiederkehrende Infektionen der Atemwege (die in einigen Fällen tödlich verliefen) berichtet."},"es":{"name":"Opsismodisplasia","definition":"Es una displasia esquelética poco frecuente caracterizada por micromelia rizomélica grave, pre- o posnatal, con acortamiento de los huesos largos (talla baja significativa congénita), pies y manos extremadamente cortos, retraso importante de la osificación esquelética, ahuecamiento metafisario, platispondilia grave, hipotonía muscular y dismorfia facial (incluyendo macrocefalia, fontanela anterior agrandada, cejas arqueadas y prominentes, hipertelorismo, exoftalmos, puente nasal deprimido, nariz pequeña antevertida con narinas relativamente anchas, filtrum largo y labio superior delgado). Los pacientes también presentan acortamiento del cuello corto y tórax angosto y acampanado. Además, se ha descrito la presencia de pliegues cutáneos circunferenciales (especialmente en la parte superior de los brazos, en las manos y en los pies) e infecciones recurrentes de las vías respiratorias (que siguieron un curso fatal en algunos casos)."},"it":{"name":"Opsimodisplasia"},"nl":{"name":"Opsismodysplasie","definition":"Een zeldzame skeletdysplasie, gekenmerkt door pre- of postnatale ernstige rhizomele micromelie met korte pijpbeenderen (congenitale dwerggroei), extreem korte voeten en handen, ernstig vertraagde ossificatie van skelet, verbreding ('cupping') van metafysen, ernstige platyspondylie, spierhypotonie en faciale dysmorfie (met onder meer macrocefalie, grote voorste fontanel, gebogen en prominente wenkbrauwen, hypertelorisme, exoftalmie, ingezakte neusbrug, kleine wipneus met relatief brede neusgaten, lang filtrum en dunne bovenlip). Patiënten vertonen ook een korte nek/hals, en een smalle, klokvormige thorax. Circumferentiële huidplooien (vooral aan bovenarmen, handen en voeten) en recidiverende luchtweginfecties (die in sommige gevallen een fataal verloop volgen) werden ook reeds gerapporteerd."},"pt":{"name":"Opsismodisplasia","definition":"A opsismodisplasia é uma displasia esquelética caracterizada por nanismo congénito e dismorfia facial."},"pl":{"name":"Opsizmodysplazja"},"cs":{"name":"Opsismodysplázie"},"uk":{"name":"Опсисмодисплазія","definition":"Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism."},"zh":{"name":"脊椎骨骺发育不良症"},"tr":{"name":"Opsismodisplazi"}},"xrefs":[{"source":"OMIM","code":"258480","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.5Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2147268863"},{"source":"MONDO","code":"0009785","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537122","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432219","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4098","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93434,"name":"Spondylodysplastic dysplasia","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"INPPL1","name":"inositol polyphosphate phosphatase like 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23273567[PMID]_23263569[PMID]","hgnc":"6080","ensembl":"ENSG00000165458","omim":"600829","loci":["11q13.4"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"23273569[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100569","label":"Abnormally ossified vertebrae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003175","label":"Hypoplastic ischia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003173","label":"Hypoplastic pubic bone","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008479","label":"Hypoplastic vertebral bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000239","label":"Large fontanelles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003177","label":"Squared iliac bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005469","label":"Flat occiput","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000592","label":"Blue sclerae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}