{"orpha":1406,"name":"Charlie M syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by the common manifestations found in oromandibular-limb hypogenesis syndromes(OLHS) group such as hypoplasia of the mandible, variable limb anomalies like syndactylyl and ectrodactyly, small mouth, cleft palate and hypodontia, accompanied by other clinical signs such as facial paralysis, facial asymmetry, hypertelorism, hypoglossia/aglossia, absent or conically crowned incisors and, ectromelia. There have been no further descriptions in the literature since 1976.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1406/","orphanet_url":"https://www.orpha.net/en/disease/detail/1406","names":{"fr":{"name":"Syndrome Charlie M","definition":"Le syndrome Charlie M est un trouble rare du développement osseux appartenant au groupe de syndromes oro-mandibulaires/ d'hypogenèse des membres incluant également le syndrome d'hypoglossie/hypodactylie et l'ankylose glossopalatine. Les anomalies majeures dans ce groupe sont une hypoplasie mandibulaire, une syndactylie et une ectrodactylie, une microstomie, une fente palatine, une hypodontie et une paralysie faciale. Les patients atteints du syndrome Charlie M présentent également un hypertélorisme, des incisives avec une couronne conique ou absente, et des degrés variables d'hypodactylie des mains et des pieds. Il n'y a pas eu de description ultérieure dans la littérature depuis 1976."},"de":{"name":"Charlie M-Syndrom","definition":"Das Charlie-M-Syndrom ist eine seltene Knochenentwicklungsstörung, die zu einer Gruppe von Hypogenesesyndromen der oromandibulären Extremitäten gehört, zu denen auch Hypoglossie, Hypodaktie und Glossopalatinankylose gehören (siehe dort). Die häufigsten Anomalien, die in dieser Gruppe auftreten, sind Hypoplasie des Unterkiefers, Syndaktylie und Ektrodaktylie, kleiner Mund, Gaumenspalte, Hypodontie und Gesichtslähmung. Patienten mit dem Charlie-M-Syndrom haben auch Hypertelorismus, fehlende oder konische Zahnkronen der Schneidezähne und einen variablen Grad der Hypodaktylie der Hände und Füße. Seit 1976 gibt es in der Literatur keine weiteren Beschreibungen."},"es":{"name":"Síndrome de Charlie M","definition":"El síndrome de Charlie M es un trastorno raro del desarrollo óseo que pertenece a un grupo de síndromes de hipogenesia oromandibular y de las extremidades que incluyen hipoglosia-hipodactilia y anquilosis glosopalatina (consulte estos términos). Las principales anomalías que se manifiestan con frecuencia en este grupo de síndromes son hipoplasia de la mandíbula, sindactilia y ectrodactilia, boca pequeña, paladar hendido, hipodoncia, y parálisis facial. Los pacientes con el síndrome de Charlie M también presentan hipertelorismo, incisivos ausentes o con una corona cónica, y grados variables de hipodactilia en manos y pies. No se han encontrado más descripciones en la literatura desde 1976."},"it":{"name":"Sindrome Charlie M","definition":"La sindrome Charlie M è un disturbo raro della crescita ossea, che appartiene al gruppo delle sindromi da ipogenesia oromandibolare-arti, che comprende l'ipoglossia-ipodattilia e la sindrome da anchilosi glosso-palatina (si vedano questi termini). Le principali anomalie presenti in questo gruppo di patologie sono l'ipoplasia mandibolare, la sindattilia, l'ectrodattilia, la bocca piccola, la palatoschisi, l'ipodontia e la paralisi facciale. I pazienti affetti da sindrome Charlie M presentano inoltre ipertelorismo, agenesia degli incisivi, o incisivi a corona conica, e diversi gradi di ipodattilia delle mani e dei piedi. Non sono stati riportati nuovi casi dal 1976."},"nl":{"name":"Syndroom van Charlie M","definition":"Charlie M-syndroom is een zeldzame stoornis van de botontwikkeling en behoort tot een groep syndromen met oromandibulaire hypogenesie van de ledematen die onder meer hypoglossie-hypodactylie en glossopalatine ankylose (zie deze termen). De voornaamste anomalieën die gemeenschappelijk voorkomen in deze groep zijn hypoplasie van de kaak, syndactylie en ectrodactylie, kleine mond, gespleten verhemelte, hypodontie, en aangezichtsverlamming. Patiënten met Charlie M-syndroom vertonen ook hypertelorisme, afwezige of conische snijtanden, en variabele gradaties van hypodactylie van de handen en voeten. Sinds 1976 zijn er geen verdere beschrijvingen te vinden in de literatuur."},"pt":{"name":"Síndrome Charlie M"},"pl":{"name":"Zespół Charliego M"},"cs":{"name":"Charlie M syndrom"},"uk":{"name":"Синдром Чарлі М","definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by the common manifestations found in oromandibular-limb hypogenesis syndromes(OLHS) group such as hypoplasia of the mandible, variable limb anomalies like syndactylyl and ectrodactyly, small mouth, cleft palate and hypodontia, accompanied by other clinical signs such as facial paralysis, facial asymmetry, hypertelorism, hypoglossia/aglossia, absent or conically crowned incisors and, ectromelia. There have been no further descriptions in the literature since 1976."},"zh":{"name":"查理M综合征"},"tr":{"name":"Charlie M sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD25.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1284734481"},{"source":"MONDO","code":"0015367","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518555","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1261","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":139036,"name":"Branchial arch or oral-acral syndrome","classifications":[147]},{"orpha":498477,"name":"Ectrodactyly with and without other manifestations","classifications":[147,156,199]},{"orpha":183576,"name":"Genetic branchial arch or oral-acral syndrome","classifications":[156]},{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":2749,"name":"Oromandibular-limb hypogenesis syndrome","classifications":[147,156,199,209]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_940017[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"940017[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001231","label":"Abnormal fingernail morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008388","label":"Abnormal toenail morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100335","label":"Non-midline cleft of the upper lip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001171","label":"Split hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009804","label":"Tooth agenesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005916","label":"Abnormal metacarpal morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001199","label":"Triphalangeal thumb","frequency":"Occasional (29-5%)","criteria":null}]}}