{"orpha":2643,"name":"Microcephalic primordial dwarfism, Toriello type","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare disorder characterised by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2643/","orphanet_url":"https://www.orpha.net/en/disease/detail/2643","names":{"fr":{"name":"Nanisme microcéphalique primordial type Toriello","definition":"Le nanisme microcéphalique primordial de type Toriello est caractérisé par un retard de croissance débutant <i>in utero</i>, une cataracte, une microcéphalie, un déficit intellectuel, un déficit immunitaire, un retard d'ossification et une hypoplasie de l'émail. Il a été décrit chez deux enfants d'une fratrie. La transmission se fait sur le mode autosomique récessif."},"de":{"name":"Kleinwuchs, mikrozephaler primordialer, Typ Toriello","definition":"Der Mikrozephale Primordiale Kleinwuchs Typ Toriello ist gekennzeichnet durch pränatal beginnenden Kleinwuchs, Katarakt, Mikrozephalie, intellektuelles Defizit, Immunschwäche, verzögerte Ossifikation und Schmelzhypoplasie."},"es":{"name":"Talla primordial microcefálica tipo Toriello","synonyms":["Enanismo primordial microcefálico tipo Toriello"],"definition":"Es un trastorno poco frecuente caracterizado por un retraso en el crecimiento de inicio prenatal, cataratas, microcefalia, déficit intelectual, inmunodeficiencia, retraso en la osificación e hipoplasia del esmalte. Se ha descrito en dos hermanos. La transmisión es autosómica recesiva."},"it":{"name":"Nanismo osteodisplasico primitivo, tipo Toriello"},"nl":{"name":"Microcefale primordiale dwerggroei, Toriello-type","definition":"Een zeldzame aandoening gekarakteriseerd door groeiretardatie met prenatale aanvang, cataracten, microcefalie, intellectuele beperking, immuundeficiëntie, vertraagde ossificatie en hypoplasie van tandglazuur. Het werd beschreven bij twee broers/zussen. De overdracht gebeurt autosomaal recessief."},"pt":{"name":"Nanismo microcefálico primordial, tipo Toriello"},"pl":{"name":"Niskorosłość pierwotna mikrocefaliczna typu Toriello"},"cs":{"name":"Mikrocefalické primordiální trpaslictví, typ Toriellové"},"uk":{"name":"Мікроцефальна первинна карликовість, тип Торіелло","definition":"A rare disorder characterised by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive."},"zh":{"name":"小头先天性侏儒症，Toriello型"},"tr":{"name":"Mikrosefalik primordiyal cücelik, Toriello tipi"}},"xrefs":[{"source":"OMIM","code":"251190","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":"index","validated":true,"icd11_uri":"279033035"},{"source":"MONDO","code":"0009616","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537321","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1855089","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3602","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]},{"orpha":93440,"name":"Slender bone dysplasia","classifications":[147,156,199]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"3799711[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3799711[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004315","label":"Decreased circulating IgG level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002850","label":"Decreased circulating total IgM","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006297","label":"Enamel hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","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:0002205","label":"Recurrent respiratory infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001875","label":"Decreased total neutrophil count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null}]}}