{"orpha":319675,"name":"Microcephalic primordial dwarfism, Dauber type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-319675/","orphanet_url":"https://www.orpha.net/en/disease/detail/319675","names":{"fr":{"name":"Nanisme microcéphalique primordial type Dauber","definition":"Anomalie rare du développement embryonnaire d'origine génétique caractérisée par un retard de croissance pré- et postnatale sévère, une microcéphalie sévère, un retard de développement et une déficience intellectuelle sévères, une forme sévère de petite taille à l'âge adulte et une dysmorphie faciale (hypotélorisme, petites oreilles, nez proéminent). Des anomalies squelettiques (déformation de Madelung, clinodactylie, légère scoliose lombaire, dysplasie bilatérale de la hanche) et des crises d'épilepsie ont par ailleurs été rapportés. L'absence de thélarche et de ménarche est également associée."},"de":{"name":"Kleinwuchs, mikrozephaler primordialer, Typ Dauber"},"es":{"name":"Talla baja significativa primordial microcefálica tipo Dauber","synonyms":["Enanismo primordial microcefálico tipo Dauber"],"definition":"Es un defecto del desarrollo embrionario, genético y poco frecuente, caracterizado por retraso grave del crecimiento pre- y postnatal, grave microcefalia, grave retraso del desarrollo y discapacidad intelectual, talla baja extrema en el adulto y dismorfia facial (incl. hipotelorismo, orejas pequeñas, nariz prominente). Otras características descritas incluyen anomalías esqueléticas (malformación de Madelung, clinodactilia, escoliosis lumbar leve, displasia de cadera bilateral) y convulsiones. También se asocian la ausencia de telarquia y de menarquia."},"it":{"name":"Nanismo primordiale microcefalico, tipo Dauber","definition":"Il nanismo primordiale microcefalico tipo Dauber è un difetto genetico raro dello sviluppo dell'embrione, caratterizzato da grave ritardo della crescita pre- e post-natale, marcata microcefalia, grave ritardo dello sviluppo e disabilità intellettiva, statura adulta notevolmente bassa e dismorfismi facciali (ipotelorismo, orecchie piccole, naso prominente). Altri segni clinici comprendono le anomalie scheletriche (deformità di Madelung, clinodattilia, lieve scoliosi lombare, displasia bilaterale delle anche) e le crisi epilettiche. Spesso si associa all'assenza di telarca e menarca."},"nl":{"name":"Microcefale primordiale dwerggroei, Dauber-type","definition":"Microcefale primordiale dwerggroei, Dauber-type, is een zeldzaam, genetisch ontwikkelingsdefect tijdens de embryogenese en wordt gekarakteriseerd door ernstige pre- en postnatale groeiretardatie, ernstige microcefalie, ernstige ontwikkelingsachterstand en intellectuele achterstand, ernstige volwassen kleine gestalte en faciale dysmorfie (waaronder hypotelorisme, kleine oren, prominente neus). Andere gerapporteerde kenmerken omvatten skeletanomalieën (Madelung-deformiteit, clinodactylie, milde lumbale scoliose, bilaterale heupdysplasie) en insulten. Afwezigheid van thelarche en menarche is ook geassocieerd."},"pt":{"name":"Nanismo primordial microcefálico, tipo Dauber"},"pl":{"name":"Pierwotna karłowatość mikrocefaliczna, typ Daubera","definition":"*Pierwotna karłowatość mikrocefaliczna typu Daubera jest rzadką, genetycznie uwarunkowaną wadą rozwojową powstałą podczas embriogenezy, która charakteryzuje się znacznym opóźnieniem wzrostu przed- i pourodzeniu, znacznym małogłowiem, ciężkim opóźnieniem rozwoju i niepełnosprawnością intelektualną, bardzo niskim wzrostem dorosłych i dysmorfią twarzy (hipoteloryzm, małe uszy, wydatny nos). Inne opisywane cechy to wady układu kostnego (deformacja Madelunga, klinodaktylia, łagodna skolioza lędźwiowa, obustronna dysplazja stawu biodrowego) oraz drgawki. Towarzyszy ponadto brak telarche (rozwój gruczołów sutkowych) i menarche (brak pierwszej miesiączki)."},"cs":{"name":"Mikrocefalické primordiální trpaslictví, Dauberův typ"},"uk":{"name":"Мікроцефальна первинна карликовість, тип Даубера","definition":"Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated."},"zh":{"name":"Dauber型小头原发性侏儒症","definition":"Dauber型小头原发性侏儒症是胚胎发育过程中一种罕见的遗传性发育缺陷，其特征为严重的出生前和出生后生长之后、重度小头畸形、重度发育迟缓和智力障碍、重度成人身材矮小和面部畸形(包括眼距过窄、耳小、鼻突出)。其他报道的特征包括骨骼异常(Madelung畸形、弯指畸形、轻度腰椎侧凸、双侧髋关节发育不良)和癫痫发作。也可能出现乳房发育和月经初潮的缺失。"},"tr":{"name":"Mikrosefalik primordiyal cücelik, Dauber tipi"}},"xrefs":[{"source":"OMIM","code":"614851","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.D","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013922","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749303","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":324761,"name":"Microcephalic primordial dwarfism","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"NIN","name":"ninein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22933543[PMID]","hgnc":"14906","ensembl":"ENSG00000100503","omim":"608684","loci":["14q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"22933543[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22933543[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-10-17","source":"22933543[PMID]","terms":[{"hpo":"HP:0001191","label":"Abnormal carpal morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012814","label":"Bilateral breast hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000601","label":"Hypotelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009826","label":"Limb undergrowth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004626","label":"Lumbar scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003067","label":"Madelung deformity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000786","label":"Primary amenorrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000448","label":"Prominent nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008846","label":"Severe intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008850","label":"Severe postnatal growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004220","label":"Short middle phalanx of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001607","label":"Subglottic stenosis","frequency":"Frequent (79-30%)","criteria":null}]}}