{"orpha":66637,"name":"Diaphanospondylodysostosis","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["DSD"],"definition":"A rare primary bone dysplasia characterized by costovertebral ossification defects with small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue. Consistent dysmorphic craniofacial features include ocular hypertelorism, epicanthal folds, depressed nasal bridge with short nose, and low-set ears. The most common extraosseous manifestations are renal abnormalities such as multicystic kidneys. The disease is usually perinatally lethal due to respiratory insufficiency.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-66637/","orphanet_url":"https://www.orpha.net/en/disease/detail/66637","names":{"fr":{"name":"Dysostose diaphano-spondylaire","synonyms":["DSD","Diaphano-spondylo-dysostose"],"definition":"Dysplasie osseuse primaire rare caractérisée par des défauts d'ossification costovertébrale avec un petit thorax, une segmentation vertébrale anormale et la partie postérieure des espaces intercostaux contenant du tissu mésenchymateux incomplètement différencié. Constante, la dysmorphie craniofaciale est à type d'hypertélorisme oculaire, d'épicanthus, de pont nasal déprimé avec un nez court et d'oreilles décollées. Les manifestations extra-osseuses les plus courantes sont des anomalies rénales telles que des reins multikystiques. La maladie est généralement létale en période périnatale en raison de l'insuffisance respiratoire."},"de":{"name":"Diaphanospondylodysostose","synonyms":["DSD"],"definition":"Eine seltene primäre Knochendysplasie, die durch costovertebrale Verknöcherungsdefekte mit kleinem Brustkorb, abnormaler Wirbelsegmentierung und hinteren Rippenspalte mit unvollständig differenziertem Mesenchymgewebe gekennzeichnet ist. Zu den konsistenten dysmorphen kraniofazialen Merkmalen gehören Hypertelorismus, Epikanthusfalten, ein vertiefter Nasenrücken mit kurzer Nase und tief angesetzte Ohren. Die häufigsten extraossären Manifestationen sind Nierenanomalien wie z. B. multizystische Nieren. Die Krankheit verläuft in der Regel perinatal tödlich aufgrund von respiratorischer Insuffizienz."},"es":{"name":"Diafanoespondilodisostosis","definition":"Es una displasia ósea primaria poco frecuente caracterizada por defectos de osificación costovertebral con tórax angosto, segmentación vertebral anómala y espacios costales posteriores que contienen tejido mesenquimatoso mal diferenciado. Las características craneofaciales dismórficas incluyen hipertelorismo ocular, pliegues epicánticos, puente nasal deprimido con nariz corta y orejas de implantación baja. Las manifestaciones extraóseas más comunes son las anomalías renales, como los riñones multiquísticos. La enfermedad suele ser letal perinatalmente debido a insuficiencia respiratoria."},"it":{"name":"Diafanospondilodisostosi","synonyms":["DSD"]},"nl":{"name":"Diafanospondylodysostose","synonyms":["DSD"],"definition":"Een zeldzame primaire botdysplasie, gekenmerkt door defecten van costovertebrale ossificatie, met kleine borstkas, abnormale segmentatie van wervels, en ruimtes tussen posterieure ribben die onvolledig gedifferentieerd mesenchymaal weefsel bevatten. Consistente dysmorfe craniofaciale kenmerken zijn onder meer oculair hypertelorisme, epicanthusplooien, ingezakte neusbrug met korte neus, en laagstaande oren. De meest gangbare extra-ossale manifestaties zijn nierafwijkingen zoals multicystische nier. De ziekte is meestal perinataal letaal als gevolg van respiratoire insufficiëntie."},"pt":{"name":"Diafanospodilodisostose","synonyms":["DSD"],"definition":"Uma displasia óssea primária rara caracterizada por defeitos de ossificação costovertebral com tórax pequeno, segmentação vertebral anormal e espaços entre as costelas posteriores contendo tecido mesenquimal incompletamente diferenciado. As características craniofaciais dismórficas consistentes incluem hipertelorismo ocular, pregas epicânticas, ponte nasal deprimida com nariz curto e orelhas de implantação baixa. As manifestações extraósseas mais comuns são as anomalias renais, como os rins multiquísticos. A doença é geralmente letal no período perinatal devido à insuficiência respiratória."},"pl":{"name":"Diafanospondylodysostoza","synonyms":["DSD"],"definition":"Rzadka pierwotna dysplazja kostna charakteryzująca się wadami kostnienia połączeń żebrowo-kręgowych i małą klatką piersiową, nieprawidłową segmentacją kręgów i tylnymi przerwami żebrowymi zawierającymi niezupełnie zróżnicowaną tkankę mezenchymalną. Cechy dysmorfii czaszki i twarzy obejmują hiperteloryzm oczny, zmarszczki nakątne, płaską nasadę nosa z jego skróceniem oraz nisko osadzone uszy. Najczęstsze objawy pozakostne to nieprawidłowości nerek, w tym nerki wielotorbielowate. Choroba zwykle prowadzi do śmierci w okresie noworodkowym z powodu niewydolności oddechowej."},"cs":{"name":"Diafanospondylodysostóza","synonyms":["DSD"]},"uk":{"name":"Діафаноспондилодизостоз","synonyms":["DSD"],"definition":"A rare primary bone dysplasia characterized by costovertebral ossification defects with small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue. Consistent dysmorphic craniofacial features include ocular hypertelorism, epicanthal folds, depressed nasal bridge with short nose, and low-set ears. The most common extraosseous manifestations are renal abnormalities such as multicystic kidneys. The disease is usually perinatally lethal due to respiratory insufficiency."},"zh":{"name":"透明脊椎骨发育不全"},"tr":{"name":"Diafanospondilodisostoz"}},"xrefs":[{"source":"OMIM","code":"608022","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":"508093071"},{"source":"MONDO","code":"0011946","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564305","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1842691","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":85200,"name":"Ischio-vertebral syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93454,"name":"Dysostosis with predominant vertebral and costal involvement","classifications":[147,156,199]},{"orpha":93434,"name":"Spondylodysplastic dysplasia","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"BMPER","name":"BMP binding endothelial regulator","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20869035[PMID]_21990102[PMID]","hgnc":"24154","ensembl":"ENSG00000164619","omim":"608699","loci":["7p14.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":18.0,"area":"Worldwide","status":"Validated","source":"26467725[PMID]_21990102[PMID]_22581610[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26467725[PMID]_21990102[PMID]_22581610[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0005640","label":"Abnormal vertebral segmentation and fusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004599","label":"Absent or minimally ossified vertebral bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100625","label":"Enlarged thorax","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000921","label":"Missing ribs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005562","label":"Multiple renal cysts","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002475","label":"Myelomeningocele","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003275","label":"Narrow pelvis bone","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010306","label":"Short thorax","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null}]}}