{"orpha":2867,"name":"Short stature, Brussels type","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Mievis-Verellen-Dumoulin syndrome"],"definition":"A rare primary bone dysplasia characterized by severe intrauterine and postnatal growth retardation and short stature in association with craniofacial dysmorphism (such as large forehead, triangular face, low-set ears, and micro-retrognathism) and osteochondrodysplastic lesions. Radiographic findings include epiphyseal maturation delay, abnormal metaphyses, a narrow thorax, small pelvis, and short and broad metacarpal bones and phalanges. There have been no further descriptions in the literature since 1996.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2867/","orphanet_url":"https://www.orpha.net/en/disease/detail/2867","names":{"fr":{"name":"Petite taille type Bruxelles","synonyms":["Syndrome de Mievis-Verellen-Dumoulin"],"definition":"Dysplasie osseuse primaire rare caractérisée par un retard de croissance intra-utérin et postnatal sévère, ainsi que par une petite taille associée à une dysmorphie craniofaciale (front large, visage triangulaire, oreilles d'implantation basse, microrétrognathie) et à des lésions d'ostéochondrodysplasie. Les clichés radiographiques révèlent un retard de maturation osseuse des épiphyses, une anomalie des métaphyses, un thorax étroit, un pelvis de petite taille, ainsi que des phalanges et des métacarpiens courts et larges. Aucun cas n'a été décrit dans la littérature depuis 1996."},"de":{"name":"Kleinwuchs Typ Brüssel","synonyms":["Mievis-Verellen-Dumounin-Syndrom"],"definition":"Eine seltene primäre Knochendysplasie, die durch eine schwere intrauterine und postnatale Wachstumsverzögerung und Kleinwuchs in Verbindung mit kraniofazialen Dysmorphien (z. B. hohe Stirn, dreieckiges Gesicht, tief angesetzte Ohren und Mikroretrognathie) und osteo-chondro-dysplastischen Läsionen gekennzeichnet ist. Zu den radiologischen Befunden gehören eine verzögerte Epiphysenreifung, abnorme Metaphysen, ein schmaler Thorax, ein kleines Becken sowie kurze und breite Mittelhandknochen und Phalangen. Seit 1996 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Talla baja tipo Bruselas","synonyms":["Síndrome de Mievis-Verellen-Dumounin"],"definition":"Es una displasia ósea primaria poco frecuente caracterizada por grave retraso del crecimiento intrauterino y postnatal, talla baja asociada a dismorfia craneofacial (como frente amplia, rostro triangular, orejas de implantación baja y microrretrognatia) y lesiones osteocondrodisplásicas. Los hallazgos radiológicos incluyen retraso de la maduración epifisaria, anomalías metafisarias, tórax angosto, pelvis pequeña y huesos metacarpianos y falanges cortos y anchos. No ha habido más descripciones en la literatura desde 1996."},"it":{"name":"Bassa statura, tipo Bruxelles","synonyms":["Sindrome di Mievis-Verellen-Dumounin"],"definition":"Si tratta di una displasia scheletrica primitiva rara, caratterizzata da grave ritardo della crescita prenatale e postnatale, bassa statura, dismorfismi craniofacciali (fronte ampia, viso triangolare, orecchie a basso impianto e micro-retrognazia) e lesioni osteocondrodisplastiche. Le radiografie evidenziano un ritardo nella maturazione delle epifisi, anomalie delle metafisi, torace stretto, ipoplasia del bacino, e metacarpi e falangi corte e larghe. Non sono stati descritti nuovi casi dopo il 1996."},"nl":{"name":"Kleine gestalte, Brussel-type","synonyms":["Syndroom van Mievis-Verellen-Dumoulin"],"definition":"Een zeldzame primaire botdysplasie, gekarakteriseerd door ernstige intra-uteriene en postnatale groeiretardatie en kleine gestalte, in associatie met craniofaciale dysmorfie (zoals groot voorhoofd, driehoekig gelaat, laagstaande oren, en microretrognathie) en osteochondrodysplastische laesies. Radiografische bevindingen zijn onder meer vertraagde maturatie van epifysen, abnormale metafysen, smalle thorax, klein bekken, en korte en brede metacarpalen en falangen. Sinds 1996 verschenen er geen bijkomende beschrijvingen meer in de literatuur."},"pt":{"name":"Baixa estatura tipo Bruxelas","synonyms":["Síndrome de Mievis-Verellen-Dumoulin"]},"pl":{"name":"Niski wzrost typu Brussels","synonyms":["Zespół Mievisa, Verellena i Dumoulina"]},"cs":{"name":"Malý vzrůst, bruselský typ","synonyms":["Mievisův-Verellen-Dumoulinové syndrom","Mievis-Verellen-Dumoulinové syndrom"]},"uk":{"name":"Низькорослість, брюссельського типу","synonyms":["Синдром Мєвіса-Вереллена-Дюмулена"],"definition":"A rare primary bone dysplasia characterized by severe intrauterine and postnatal growth retardation and short stature in association with craniofacial dysmorphism (such as large forehead, triangular face, low-set ears, and micro-retrognathism) and osteochondrodysplastic lesions. Radiographic findings include epiphyseal maturation delay, abnormal metaphyses, a narrow thorax, small pelvis, and short and broad metacarpal bones and phalanges. There have been no further descriptions in the literature since 1996."},"zh":{"name":"身材矮小症，Brussels型","synonyms":["Mievis-Verellen-Dumoulin综合征"]},"tr":{"name":"Kısa boy, Brüksel tipi","synonyms":["Mievis-Verellen-Dumoulin sendromu"]}},"xrefs":[{"source":"OMIM","code":"601350","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.2Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"251068104"},{"source":"MONDO","code":"0011046","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537121","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1832439","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4838","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93450,"name":"Primary bone dysplasia with disorganized development of skeletal components","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"8867654[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8867654[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-12-20","source":"8867654[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100593","label":"Calcification of cartilage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002663","label":"Delayed epiphyseal ossification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000085","label":"Horseshoe kidney","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000308","label":"Microretrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Frequent (79-30%)","criteria":null}]}}