{"orpha":2021,"name":"Fibrochondrogenesis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, rhizo-mesomelic dysplasia characterized by distinct facial features (flat midface, flat small nose, anteverted nares, low set ears, protuberant eyes, and small mouth with long upper lip), markedly short limbs with relatively normal hands and feet, short ribs with broad metaphyses and small bell-shaped thorax with protuberant abdomen. Vertebral bodies are flat, creating a distinctive pinched appearance in lateral radiographic views. Cleft palate, micrognathia, bifid tongue and brachyclinodactyly with some soft tissue syndactyly have been reported in few patients. It is mostly a neonatally lethal condition. Affected individuals who survive the neonatal period persents with severe global developmental delay, severe skeletal dysplasia, high myopia and mild to moderate hearing loss.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2021/","orphanet_url":"https://www.orpha.net/en/disease/detail/2021","names":{"fr":{"name":"Fibrochondrogenèse","definition":"Dysplasie rhizo-mésomélique rare caractérisée par une dysmorphie faciale caractéristque (étage moyen de la face aplati, petit nez plat, narines antéversées, oreilles d'implantation basse, yeux protubérants, petite bouche et lèvre supérieure longue), un raccourcissement marqué des membres avec des mains et des pieds relativement normaux, des côtes courtes avec des métaphyses larges et un petit thorax en forme de cloche et un abdomen protubérant. Les corps vertébraux sont plats, ce qui donne un aspect pincé caractéristique sur les radiographies latérales. Une fente palatine, une micrognathie, une langue bifide et une brachydactylie/clinodactylie et quelques cas de syndactylie des tissus mous ont été rapportés chez quelques patients. Il s'agit le plus souvent d'une pathologie néonatale létale. Les individus atteints ayant survécu à la période néonatale connaissent un retard de développement global sévère, une dysplasie squelettique sévère, une forte myopie et une perte auditive légère à modérée."},"de":{"name":"Fibrochondrogenesie","definition":"Eine seltene rhizomele Dysplasie, die durch ausgeprägte Gesichtsmerkmale (flaches Mittelgesicht, flache kleine Nase, nach vorne geneigte Nasenlöcher, tiefsitzende Ohren, hervorstehende Augen und kleiner Mund mit langer Oberlippe), deutlich verkürzte Gliedmaßen mit relativ normalen Händen und Füßen, kurze Rippen mit breiten Metaphysen und einen kleinen glockenförmigen Brustkorb mit hervorstehendem Bauch gekennzeichnet ist. Die Wirbelkörper sind flach, was in seitlichen Röntgenaufnahmen zu einem charakteristischen verengten Erscheinungsbild führt. Bei einigen Patienten wurden Gaumenspalte, Mikrognathie, gespaltene Zunge und Brachydaktylie mit einer gewissen Weichteil-Syndaktylie beobachtet. In den meisten Fällen handelt es sich um eine für Neugeborene tödliche Erkrankung. Betroffene Personen, die die Neugeborenenphase überleben, weisen eine schwere allgemeine Entwicklungsverzögerung, schwere Skelettdysplasie, hohe Kurzsichtigkeit und leichten bis mittelschweren Hörverlust auf."},"es":{"name":"Fibrocondrogénesis","definition":"Es una displasia rizomesomélica poco frecuente caracterizada por rasgos faciales distintivos (aplanamiento mediofacial, nariz pequeña y plana, fosas nasales antevertidas, orejas de implantación baja, ojos protuberantes y boca pequeña con labio superior alargado), extremidades marcadamente cortas con manos y pies relativamente normales, costillas con amplias metáfisis y tórax angosto y acampanado con abdomen protuberante. Los cuerpos vertebrales son planos, lo que confiere una apariencia distintiva en las vistas radiográficas laterales. En una minoría de pacientes se han descrito paladar hendido, micrognatia, lengua bífida y braquiclinodactilia con sindactilia de tejidos blandos. Suele ser una afección letal en el periodo neonatal. Los pacientes que sobreviven presentan un retraso grave del desarrollo global, displasia esquelética grave, alta miopía e hipoacusia de leve a moderada."},"it":{"name":"Fibrocondrogenesi"},"nl":{"name":"Fibrochondrogenese","definition":"Een zeldzame rhizomesomele dysplasie, gekenmerkt door uitgesproken gelaatskenmerken (plat middengezicht, platte kleine neus, anteversie van de neusgaten, laagstaande oren, uitpuilende ogen, en kleine mond met lange bovenlip), opmerkelijk korte ledematen met relatief normale handen en voeten, korte ribben met brede metafysen en kleine klokvormige thorax met uitpuilend abdomen. De wervellichamen zijn plat, waardoor een duidelijk samengeknepen beeld ontstaat bij laterale radiografie. Gespleten gehemelte, micrognathie, bifide tong en brachyclinodactylie met enige syndactylie van weke delen werden bij enkele patiënten gerapporteerd. De ziekte is meestal neonataal letaal. Getroffen individuen die de neonatale periode overleven, vertonen ernstige algehele ontwikkelingsachterstand, ernstige skeletdysplasie, hoge myopie, en mild tot matig gehoorverlies."},"pt":{"name":"Fibrocondrogénese"},"pl":{"name":"Fibrochondrogeneza","definition":"Rzadka, ryzo-mezomeliczna dysplazja charakteryzująca się charakterystycznymi cechami twarzy (płaska środkowa część, płaski mały nos, odwrócone nozdrza, nisko osadzone uszy, wystające oczy i małe usta z długą górną wargą), wyraźnym skróceniem kończyn z raczej prawidłowym kształtem dłoni i stóp, krótkimi żebrami z szerokimi przynasadami, małą klatką piersiową w kształcie dzwonu oraz wystającym brzuchem. Trzony kręgów są płaskie, co powoduje, że na bocznych obrazach radiograficznych wyglądają na ściśnięte. U niektórych pacjentów zgłoszono rozszczep podniebienia, małożuchwie, rozdwojony język i brachyklinodaktylię z syndaktylią, obejmującą tkanki miękkie. Choroba ma przebieg letalny, zwykle w okresie noworodkowym. U chorych, którzy przeżyją okres noworodkowy, obserwuje się poważne globalne opóźnienie rozwoju, ciężką dysplazję szkieletową, dużą krótkowzroczność i łagodny lub umiarkowany niedosłuch."},"cs":{"name":"Fibrochondrogeneze"},"uk":{"name":"Фіброхондрогенез","definition":"Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported."},"zh":{"name":"纤维软骨增生"},"tr":{"name":"Fibrokondrojenez"}},"xrefs":[{"source":"OMIM","code":"228520","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"614524","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":"1412541453"},{"source":"MONDO","code":"0016068","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562524","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265282","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2321","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93438,"name":"Mesomelic and rhizo-mesomelic dysplasia","classifications":[147,156,199]},{"orpha":93422,"name":"Type 11 collagen-related bone disorder","classifications":[156]}],"children":[],"genes":[{"symbol":"COL11A1","name":"collagen type XI alpha 1 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"21035103[PMID]","hgnc":"2186","ensembl":"ENSG00000060718","omim":"120280","loci":["1p21.1"]},{"symbol":"COL11A2","name":"collagen type XI alpha 2 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22246659[PMID]","hgnc":"2187","ensembl":"ENSG00000204248","omim":"120290","loci":["6p21.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"24127948[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24127948[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000940","label":"Abnormal diaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001591","label":"Bell-shaped thorax","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000885","label":"Broad ribs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000311","label":"Round face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000773","label":"Short ribs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000260","label":"Wide anterior fontanel","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000364","label":"Hearing abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001804","label":"Hypoplastic fingernail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000882","label":"Hypoplastic scapulae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001539","label":"Omphalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001357","label":"Plagiocephaly","frequency":"Occasional (29-5%)","criteria":null}]}}