{"orpha":2637,"name":"Microcephalic osteodysplastic primordial dwarfism type II","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["MOPD type II","Majewski osteodysplastic primordial dwarfism type II"],"definition":"A rare bone disease and a form of microcephalic primordial dwarfism characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2637/","orphanet_url":"https://www.orpha.net/en/disease/detail/2637","names":{"fr":{"name":"Nanisme microcéphalique ostéodysplasique primordial type II","synonyms":["MOPD type II","Nanisme microcéphalique ostéodysplasique primordial de Majewski type 2"],"definition":"Dysplasie osseuse rare et nanisme microcéphalique primordial, caractérisés par un retard de croissance pré- et post-natal sévère, une microcéphalie marquée proportionnée par rapport au reste du corps, une dysplasie squelettique, une dentition anormale, une résistance à l'insuline et un risque accru de maladie cérébrovasculaire."},"de":{"name":"Kleinwuchs, mikrozephaler osteodysplastischer primordialer, Typ II","synonyms":["MOPD Typ II","Mikrozephaler osteodysplastischer primordialer Kleinwuchs Typ Majewski"],"definition":"Eine seltene Knochenkrankheit und eine Form des mikrozephalen Kleinwuchses, die durch eine schwere prä- und postnatale Wachstumsverzögerung mit ausgeprägter Mikrozephalie im Verhältnis zur Körpergröße, Skelettdysplasie, abnormem Gebiss, Insulinresistenz und erhöhtem Risiko für zerebrovaskuläre Erkrankungen gekennzeichnet ist."},"es":{"name":"Talla baja significativa primordial osteodisplásica microcefálica tipo II","synonyms":["Enanismo primordial osteodisplásico de Majewski tipo II","Enanismo primordial osteodisplásico microcefálico tipo II","MOPD tipo II"],"definition":"Es una enfermedad ósea poco frecuente y una forma de enanismo primordial microcefálico caracterizada por un grave retraso del crecimiento pre- y posnatal, con una marcada microcefalia en proporción al tamaño corporal, displasia esquelética, dentición anómala, resistencia a la insulina y un mayor riesgo de enfermedad cerebrovascular."},"it":{"name":"Nanismo primordiale osteodisplastico microcefalico, tipo II","synonyms":["MOPD, tipo II","Nanismo primordiale osteodisplastico di Majewski, tipo II"],"definition":"Il nanismo primordiale osteodisplastico microcefalico tipo II (MOPDII) è una malattia scheletrica rara, una forma di nanismo primordiale microcefalico caratterizzata da grave ritardo della crescita pre- e post-natale, associato a marcata microcefalia rispetto alle dimensioni del corpo, displasia scheletrica, anomalie della dentizione, insulino-resistenza e aumento del rischio di malattie cerebrovascolari."},"nl":{"name":"Microcefale osteodysplastische primordiale dwerggroei type II","synonyms":["MOPD type II","Majewski osteodysplastische primordiale dwerggroei type II"],"definition":"Een zeldzame botaandoening en een vorm van microcefale primordiale dwerggroei, gekarakteriseerd door ernstige pre- en postnatale groeiretardatie, met duidelijke microcefalie in verhouding tot de lichaamslengte, skeletdysplasie, tandafwijkingen, insulineresistentie, en verhoogd risico op cerebrovasculaire ziekte."},"pt":{"name":"Nanismo primordial osteodisplásico microcefálico tipo 2"},"pl":{"name":"Pierwotna karłowatość osteodysplastyczna mikrocefaliczna typu II","synonyms":["MOPD typu II","Pierwotna karłowatość osteodysplastyczna Majewskiego typu II"]},"cs":{"name":"Primordiální osteodysplastické trpaslictví s mikrocefalií, typ II","synonyms":["MOPD, typ II","Majewského primordiální osteodysplastické trpaslictví, typ II"]},"uk":{"name":"Мікроцефальна остеодиспластична первинна карликовість,тип II","synonyms":["Остеодиспластична первинна карликовість Маєвського II типу","MOPD тип II"],"definition":"A rare bone disease and a form of microcephalic primordial dwarfism characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease."},"zh":{"name":"小头骨发育不良先天性侏儒2型","synonyms":["小头畸形-骨发育不良-原基性侏儒综合征Ⅱ型"]},"tr":{"name":"Mikrosefalik osteodisplastik primordiyal cücelik tip II","synonyms":["MOPD tip II","Majewski osteodisplastik primordiyal cücelik tip II"]}},"xrefs":[{"source":"OMIM","code":"210720","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD20.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"64477889"},{"source":"MONDO","code":"0008872","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565898","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432246","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9844","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":46658,"name":"Primordial short stature-microdontia-opalescent and rootless teeth syndrome","status":"inactive"}],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":324761,"name":"Microcephalic primordial dwarfism","classifications":[147,156,181]},{"orpha":477771,"name":"Rare disorder with a moyamoya angiopathy","classifications":[156,181]},{"orpha":93440,"name":"Slender bone dysplasia","classifications":[147,156,199]},{"orpha":240371,"name":"Syndromic obesity","classifications":[147,156,193]}],"children":[],"genes":[{"symbol":"PCNT","name":"pericentrin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"18174396[PMID]","hgnc":"16068","ensembl":"ENSG00000160299","omim":"605925","loci":["21q22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":150.0,"area":"Worldwide","status":"Validated","source":"23498563[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","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:0001620","label":"Abnormally high-pitched voice","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009906","label":"Aplasia/Hypoplasia of the earlobes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002812","label":"Coxa vara","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003498","label":"Disproportionate short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002213","label":"Fine hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001611","label":"Hypernasal speech","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002866","label":"Hypoplastic iliac wing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003275","label":"Narrow pelvis bone","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000448","label":"Prominent nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009804","label":"Tooth agenesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000055","label":"Abnormality of female external genitalia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100840","label":"Aplasia/Hypoplasia of the eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001053","label":"Hypopigmented skin patches","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000691","label":"Microdontia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007565","label":"Multiple cafe-au-lait spots","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001956","label":"Truncal obesity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100659","label":"Abnormality of the cerebral vasculature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100545","label":"Arterial stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002617","label":"Dilatation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001601","label":"Laryngomalacia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045025","label":"Narrow palpebral fissure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000826","label":"Precocious puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002777","label":"Tracheal stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}