{"orpha":239,"name":"Dyggve-Melchior-Clausen disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic primary bone dysplasia of the spondylo-epi-metaphyseal dysplasia (SEMD) group characterized by progressive short-trunked dwarfism, protruding sternum, microcephaly, intellectual disability and pathognomonic radiological findings (generalized platyspondyly with double-humped end plates, irregularly ossified femoral heads, a hypoplastic odontoid, and a lace-like appearance of iliac crests)","note":null,"url":"https://raremap.alftech.space/d/ORPHA-239/","orphanet_url":"https://www.orpha.net/en/disease/detail/239","names":{"fr":{"name":"Syndrome de Dyggve-Melchior-Clausen","definition":"Dysplasie osseuse primaire rare d'origine génétique, appartenant au groupe des dysplasies spondylo-épithéliales (SEMD), caractérisée par un déficit statural sévère et progressif aux dépens du tronc, un thorax en bouclier, une microcéphalie, une déficience intellectuelle et une radiologie pathognomonique (révélant une platyspondylie généralisée avec double ondulation des plateaux vertébraux, une ossification irrégulière de la tête fémorale, une hypoplasie de l'odontoïde et un aspect festonné des ailes iliaques)."},"de":{"name":"Dyggve-Melchior-Clausen-Syndrom","definition":"Eine genetisch bedingte primäre Knochendysplasie aus der Gruppe der Spondylo-epi-metaphysären Dysplasien (SEMD), die durch progrediente Wachstumsverzögerung, vorspringendes Sternum, Mikrozephalie, Intelligenzminderung und pathognomonische radiologische Befunde (generalisierte Platyspondylie mit doppelhöckerigen Endplatten, unregelmäßig verknöcherte Femurköpfe, ein hypoplastisches Odontoid und ein spitzenartiges Aussehen der Beckenkämme) gekennzeichnet ist."},"es":{"name":"Síndrome de Dyggve-Melchior-Clausen","definition":"Es una displasia ósea primaria genética poco frecuente del grupo de las displasias espondilo-epi-metafisarias (SEMD, por sus siglas en inglés) caracterizada por talla baja grave progresiva de tronco corto, esternón protuberante, microcefalia, discapacidad intelectual y hallazgos radiológicos patognomónicos (platispondilia generalizada con placas terminales de doble joroba, cabezas femorales de osificación irregular, proceso odontoide hipoplásico y crestas ilíacas ''en encaje'')."},"it":{"name":"Malattia di Dyggve-Melchior-Clausen","definition":"La malattia di Dyggve-Melchior-Clausen (DMC) è una displasia scheletrica primitiva rara di natura genetica, appartenente al gruppo delle displasie spondiloepimetafisarie (SEMD). È caratterizzata da nanismo progressivo con tronco corto, sterno prominente, microcefalia, disabilità intellettiva e anomalie patognomoniche evidenti alle radiografie (platispondilia generalizzata con piatti vertebrali a doppia gobba, ossificazione irregolare della testa del femore, ipoplasia dell'odontoide, e creste iliache dall'aspetto simile ad un pizzo)."},"nl":{"name":"Ziekte van Dyggve-Melchior-Clausen","definition":"Een zeldzame, genetische primaire botdysplasie van de groep van spondylo-epimetafysaire dysplasie (SEMD), gekarakteriseerd door progressieve dwerggroei met korte romp, vooruitstekend sternum, microcefalie, intellectuele achterstand en pathognomonische radiologische bevindingen (gegeneraliseerde platyspondylie met eindplaten met dubbele uitsteeksels, onregelmatig verbeende femurkoppen, hypoplasie van dens axis, en bekkenkam met veterachtig uiterlijk)."},"pt":{"name":"Doença de Dyggve-Melchior-Clausen","definition":"A doença de Dyggve-Melchior-Clausen (DMC) é uma patologia esquelética rara pertencente ao grupo das displasias espondiloepimetafisárias (ver este termo)."},"pl":{"name":"Choroba Dyggve, Melchiora i Clausena"},"cs":{"name":"Dyggveho-Melchiorova-Clausenova choroba","synonyms":["Dyggve-Melchior-Clausenova choroba"]},"uk":{"name":"Хвороба Дигве-Мельхіора-Клаузена","definition":"A rare, genetic primary bone dysplasia of the spondylo-epi-metaphyseal dysplasia (SEMD) group characterized by progressive short-trunked dwarfism, protruding sternum, microcephaly, intellectual disability and pathognomonic radiological findings (generalized platyspondyly with double-humped end plates, irregularly ossified femoral heads, a hypoplastic odontoid, and a lace-like appearance of iliac crests)"},"zh":{"name":"Dyggve-Melchior-Clausen综合征"},"tr":{"name":"Dyggve-Melchior-Clausen hastalığı"}},"xrefs":[{"source":"OMIM","code":"223800","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"304950","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":"21266164"},{"source":"MONDO","code":"0009130","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535726","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265286","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6295","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":253,"name":"Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"DYM","name":"dymeclin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"21280149[PMID]_12554689[PMID]_18996921[PMID]_12491225[PMID]","hgnc":"21317","ensembl":"ENSG00000141627","omim":"607461","loci":["18q21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-06-18","source":"33216345[PMID]_32766185[PMID]","terms":[{"hpo":"HP:0003521","label":"Disproportionate short-trunk short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002651","label":"Spondyloepimetaphyseal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040163","label":"Abnormal pelvis bone morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003368","label":"Abnormality of the femoral head","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003272","label":"Abnormality of the hip bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000925","label":"Abnormality of the vertebral column","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005106","label":"Abnormality of the vertebral endplates","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004568","label":"Beaking of vertebral bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006429","label":"Broad femoral neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000885","label":"Broad ribs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002656","label":"Epiphyseal dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031233","label":"Horizontal inferior border of scapula","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003090","label":"Hypoplasia of the capital femoral epiphysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003274","label":"Hypoplastic acetabulae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000946","label":"Hypoplastic ilia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008786","label":"Iliac crest serration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003690","label":"Limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100255","label":"Metaphyseal dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008905","label":"Rhizomelia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003026","label":"Short long bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010306","label":"Short thorax","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003183","label":"Wide pubic symphysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003028","label":"Abnormality of the ankles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003467","label":"Atlantoaxial instability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004242","label":"Broad carpal bones","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002812","label":"Coxa vara","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003698","label":"Difficulty standing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031987","label":"Diminished ability to concentrate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002359","label":"Frequent falls","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006633","label":"Glenoid fossa hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003311","label":"Hypoplasia of the odontoid process","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001377","label":"Limited elbow extension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003066","label":"Limited knee extension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001538","label":"Protuberant abdomen","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002788","label":"Recurrent upper respiratory tract infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002747","label":"Respiratory insufficiency due to muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001285","label":"Spastic tetraparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012379","label":"Abnormal enzyme/coenzyme activity","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Excluded (0%)","criteria":null}]}}