{"orpha":2631,"name":"Mesomelic dwarfism-cleft palate-camptodactyly syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Mesomelic dysplasia, Kozlowski-Reardon type","Mesomelic dysplasia, Reardon type","Reardon-Hall-Slaney syndrome"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. Fatal course due to cardiorespiratory arrest has also been reported. There have been no further descriptions in the literature since 1993.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2631/","orphanet_url":"https://www.orpha.net/en/disease/detail/2631","names":{"fr":{"name":"Syndrome de nanisme mésomélique-fente palatine-camptodactylie","synonyms":["Syndrome de Reardon-Hall-Slaney"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare caractérisé par un raccourcissement mésomélique et une incurvation des membres, une camptodactylie, une peau criblée de fossettes et une fente palatine avec rétrognathie et hypoplasie mandibulaire. Un cas d'évolution vers le décès, dû à un arrêt cardio-respiratoire, a également été rapporté. Aucun nouveau cas n'a été décrit dans la littérature depuis 1993."},"de":{"name":"Mesomeler Kleinwuchs-Gaumenspalte-Kamptodaktylie-Syndrom","synonyms":["Dysplasie, mesomele, Typ Kozlowski-Reardon","Dysplasie, mesomele, Typ Reardon","Reardon-Hall-Slaney-Syndrom"],"definition":"Ein seltenes Syndrom mit multiplen kongenitalen Anomalien/Dysmorphien, das durch mesomelische Verkürzung und Verkrümmung der Gliedmaßen, Kamptodaktylie, Hautdellen und Gaumenspalte mit Retrognathie und Unterkieferhypoplasie gekennzeichnet ist. Es wurde auch über einen tödlichen Verlauf aufgrund von Herz- und Atemstillstand berichtet. Seit 1993 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de displasia mesomélica-paladar hendido-camptodactilia","synonyms":["Displasia mesomélica tipo Kozlowski-Reardon","Displasia mesomélica tipo Reardon","Síndrome de Reardon-Hall-Slaney","Síndrome de enanismo mesomélico-paladar hendido-camptodactilia"],"definition":"Es un síndrome dismórfico/de múltiples anomalías congénitas poco frecuente caracterizado por acortamiento mesomélico e incurvación de las extremidades, camptodactilia, hoyuelos en la piel y paladar hendido con retrognatia e hipoplasia mandibular. También se ha descrito un curso fatal por paro cardiorrespiratorio. No se han publicado más descripciones en la literatura desde 1993."},"it":{"name":"Nanismo mesomelico - palatoschisi - camptodattilia","synonyms":["Sindrome di Reardon-Hall-Slaney"]},"nl":{"name":"Mesomele dwerggroei - gespleten verhemelte - camptodactylie-syndroom","synonyms":["Mesomele dysplasie, Kozlowski-Reardon-type","Mesomele dysplasie, Reardon-type","Syndroom van Reardon-Hall-Slaney"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door mesomele verkorting en kromstand van de ledematen, camptodactylie, putjes in de huid, en gespleten gehemelte met retrognathie en hypoplasie van mandibula. Een fataal verloop door cardiorespiratoir arrest werd ook reeds gerapporteerd. Sinds 1993 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de nanismo mesomélico-fenda do palato-camptodactilia","synonyms":["Síndrome Reardon-Hall-Slaney"]},"pl":{"name":"Niskorosłość mezomeliczna - rozszczep podniebienia - kampodaktylia","synonyms":["Zespół Reardona, Halla i Slaney'a"]},"cs":{"name":"Syndrom zahrnující mezomelické trpaslictví, rozštěp patra a kamptodaktylii","synonyms":["Reardonův-Hallové-Slaneyové syndrom","Reardon-Hall-Slaneyové syndrom"]},"uk":{"name":"Синдром мезомелічної карликовості-розщілини піднебіння-камптодактилії","synonyms":["Мезомелічна дисплазія, тип Козловського-Рірдона","Мезомелічна дисплазія, тип Ріардона","Синдром Рірдона-Холла-Слейні"],"definition":"A rare syndrome characterised by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive."},"zh":{"name":"肢中性侏儒-腭裂-屈曲指综合征","synonyms":["肢中骨发育不良，Kozlowski-Reardon型"]},"tr":{"name":"Mezomelik cücelik-yarık damak-kamptodaktili sendromu","synonyms":["Reardon-Hall-Slaney sendromu","Mezomelik displazi, Reardon tipi","Mezomelik displazi, Kozlowski-Reardon tipi"]}},"xrefs":[{"source":"OMIM","code":"249710","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.A","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1895529415"},{"source":"MONDO","code":"0009589","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535294","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2930871","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3552","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":93438,"name":"Mesomelic and rhizo-mesomelic dysplasia","classifications":[147,156,199]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":139039,"name":"Orofacial clefting syndrome","classifications":[147,156,200,209]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"8267013[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8267013[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003272","label":"Abnormality of the hip bone","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006487","label":"Bowing of the long bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003042","label":"Elbow dislocation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003027","label":"Mesomelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010781","label":"Skin dimple","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002101","label":"Abnormal lung lobation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005916","label":"Abnormal metacarpal morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000396","label":"Overfolded helix","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003422","label":"Vertebral segmentation defect","frequency":"Frequent (79-30%)","criteria":null}]}}