{"orpha":79347,"name":"Chondrodysplasia punctata, Toriello type","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Toriello-Higgins-Miller syndrome"],"definition":"Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterized by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79347/","orphanet_url":"https://www.orpha.net/en/disease/detail/79347","names":{"fr":{"name":"Chondrodysplasie ponctuée type Toriello","synonyms":["Syndrome de Toriello-Higgins-Miller"],"definition":"La chondrodysplasie ponctuée type Toriello est une dysplasie osseuse primaire, non rhizomélique et rare, caractérisée par la calcification ponctuée des épiphyses, associée à des anomalies faciales mineures, une petite taille et un colobome oculaire. Les patients présentent par ailleurs une chondrodysplasie ponctuée, une brachycéphalie, un visage plat avec un petit nez, des paupières inférieures plates et des oreilles implantées basses, un retard de développement, une brachytéléphalangie et des sillons palmaires profonds. Une maladie cardiaque congénitale complexe et des anomalies du système nerveux central (incluant l'absence partielle du corps calleux, un vermis hypoplasique, un élargissement de la citerne cérébello-médullaire postérieure et/ou des cornes antérieures des ventricules latéraux) ont aussi été rapportées."},"de":{"name":"Chondrodysplasia punctata Typ Toriello","synonyms":["Toriello-Higgins-Miller-Syndrom"],"definition":"Ein seltene, nicht-rhizomele primäre Knochendysplasie, die durch kalzifizierende Stippelung der Epiphysen in Verbindung mit leichten Gesichtsanomalien, Kleinwuchs und okulären Kolobom gekennzeichnet ist. Darüber hinaus präsentieren sich die Patienten mit Chondrodysplasia punctata, Brachyzephalie, einem flachen Gesichtsprofil mit kleiner Nase, flachen unteren Augenlidern und tief angesetzten Ohren. Weitere Merkmale sind Entwicklungsverzögerung, Brachytelephalangie und tiefe Handfurchen. Komplexe kongenitale Herzerkrankungen und Anomalien des Zentralnervensystems (einschließlich teilweises Fehlen des Corpus callosum, kleine Vermis, Vergrößerung der Cisterna magna und/oder der Vorderhörner der Seitenventrikel) wurden ebenfalls beschrieben."},"es":{"name":"Condrodisplasia punctata tipo Toriello","synonyms":["Síndrome de Toriello-Higgins-Miller"],"definition":"La condrodisplasia punctata tipo Toriello, es un síndrome de displasia ósea primaria no rizomélico poco frecuente caracterizado por calcificaciones epifisarias punteadas en asociación con anomalías faciales menores, talla baja y coloboma ocular. Además, los afectados presentan condrodisplasia punctata, braquicefalia, perfil facial plano con nariz pequeña, párpados inferiores planos y orejas de implantación baja, retraso del desarrollo, braquitelefalangia y pliegues palmares profundos. Tambien se ha descrito asociación con enfermedades cardíacas congénitas complejas y anomalías del sistema nervioso central (incluida la ausencia parcial de cuerpo calloso, vermis pequeño, agrandamiento de la cisterna magna y/o de los cuernos anteriores de los ventrículos laterales)."},"it":{"name":"Condrodisplasia puntata, tipo Toriello","synonyms":["Sindrome di Toriello-Higgins-Miller"],"definition":"La condrodisplasia puntata tipo Toriello è una displasia scheletrica primitiva rara, non rizomelica, caratterizzata dalla calcificazione punteggiata delle epifisi, associata a dismorfismi facciali sfumati, bassa statura e colobomi oculari. Inoltre, i pazienti presentano condrodisplasia puntata, brachicefalia, profilo facciale appiattito con naso piccolo, palpebre inferiori appiattite e orecchie a basso impianto, ritardo dello sviluppo, brachitelefalangia e linea delle quattro dita profonda. Sono stati descritti casi di pazienti con cardiopatie congenite complesse e anomalie del sistema nervoso centrale (agenesia parziale del corpo calloso, verme di piccole dimensioni, allargamento della cisterna magna e/o delle corna anteriori dei ventricoli laterali)."},"nl":{"name":"Chondrodysplasia punctata, Toriello-type","synonyms":["Syndroom van Toriello-Higgins-Miller"],"definition":"Chondrodysplasia punctata, Toriello-type is een zeldzaam, niet-rhizomeel, primaire botdysplasie-syndroom dat gekarakteriseerd wordt door gestippelde verkalking van epifysen in associatie met geringe faciale afwijkingen, een kleine gestalte en oculaire colobomen. Daarbovenop vertonen patiënten chondrodysplasia punctata, brachycefalie, plat gelaatsprofiel met smalle neus, platte onderste oogleden, laagstaande oren, ontwikkelingsachterstand, brachytelefalangie en diepe handlijnen. Complexe congenitale hartziekte en anomalieën van het centrale zenuwstelsel (waaronder partiële afwezigheid van het corpus callosum, kleine vermis, vergroting van de cisterna magna en/of van de voorhoorns van de zijventrikels) werden ook reeds gerapporteerd."},"pt":{"name":"Síndrome de Toriello-Higgins-Miller"},"pl":{"name":"Chondrodysplazja punktowa, typ Toriello","synonyms":["Zespół Toriello, Higginsa i Millera"]},"cs":{"name":"Chondrodysplasia punctata, Toriellův typ","synonyms":["Toriellův-Higginsův-Millerův syndrom","Toriello-Higgins-Millerův syndrom"]},"uk":{"name":"Хондродисплазія точкова, тип Торіелло","synonyms":["Синдром Торіелло-Хіггінса-Міллера"],"definition":"Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterized by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported."},"zh":{"name":"点状软骨发育不良，Toriello型","synonyms":["Toriello-Higgins-Miller综合征"]},"tr":{"name":"Kondrodisplazi punktata, Toriello tipi","synonyms":["Toriello-Higgins-Miller sendromu"]}},"xrefs":[{"source":"OMIM","code":"215105","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.04","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1167798993"},{"source":"MONDO","code":"0008973","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4275076","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":176,"name":"Non-rhizomelic chondrodysplasia punctata","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"8267015[PMID]_9450859[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8267015[PMID]_9450859[PMID]"}],"phenotypes":null}