{"orpha":3270,"name":"Radioulnar synostosis-developmental delay-hypotonia syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Der Kaloustian-McIntosh-Silver syndrome"],"definition":"Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3270/","orphanet_url":"https://www.orpha.net/en/disease/detail/3270","names":{"fr":{"name":"Syndrome de synostose radio-cubitale-retard de développement-hypotonie","synonyms":["Syndrome de Der Kaloustian-McIntosh-Silver"],"definition":"Syndrome extrêmement rare, également connu sous le nom de syndrome de Guiffré-Tsukahara, caractérisé par l'association d'une synostose radio-ulnaire et d'une microcéphalie, d'une scoliose, d'une petite taille et d'une déficience intellectuelle."},"de":{"name":"Radioulnare Synostose-Entwicklungsretardierung-Hypotonie-Syndrom","synonyms":["Der-Kaloustian-McIntosh-Silver-Syndrom"]},"es":{"name":"Síndrome de sinostosis radiocubital-retraso del desarrollo-hipotonía","synonyms":["Síndrome de Der Kaloustian-McIntosh-Silver"],"definition":"Es un síndrome muy poco frecuente descrito hasta la fecha en 4 pacientes. Los hallazgos clínicos incluyen sinostosis radiocubital congénita unilateral, hipotonía generalizada, retraso en el desarrollo y rasgos faciales dismórficos (cara alargada, orejas y nariz prominentes)."},"it":{"name":"Sindrome sinostosi radioulnare-ritardo dello sviluppo-ipotonia","synonyms":["Sindrome di Der Kaloustian-McIntosh-Silver"],"definition":"La sindrome da sinostosi radioulnare-ritardo dello sviluppo-ipotonia, nota come sindrome di Der Kaloustian-McIntosh-Silver, è una sindrome molto rara, caratterizzata da sinostosi. E' stata descritta in 4 pazienti. I segni clinici comprendono la sinostosi radioulnare monolaterale congenita, l'ipotonia generalizzata, il ritardo dello sviluppo e i dismorfismi facciali (viso allungato, naso e orecchie prominenti)."},"nl":{"name":"Radio-ulnaire synostose - ontwikkelingsachterstand - hypotonie-syndroom","synonyms":["Syndroom van Der Kaloustian-McIntosh-Silver"],"definition":"Radio-ulnaire synostose - ontwikkelingsachterstand - hypotonie-syndroom, ook gekend als syndroom van Der Kaloustian-McIntosh-Silver, is een uiterst zeldzaam syndroom met synostose dat tot op heden werd beschreven in 4 patiënten, met klinische manifestaties waaronder congenitale unilaterale radio-ulnaire synostose, gegeneraliseerde hypotonie, ontwikkelingsachterstand, en dysmorfe gelaatskenmerken (lang gelaat, uitgesproken neus en oren)."},"pt":{"name":"Síndrome de sinostose radio-cubital-perturbação do desenvolvimento-hipotonia","synonyms":["Síndrome Der Kaloustian-McIntosh-Silver"]},"pl":{"name":"Synostoza promieniowo-łokciowa - niepełnosprawność intelektualna - hipotonia","synonyms":["Zespół Der Kaloustiana, McIntosha i Silvera"]},"cs":{"name":"Syndrom zahrnující radioulnární synostózu, opoždění vývoje a hypotonii","synonyms":["Der Kaloustianův-McIntoshův-Silverův syndrom","Der Kaloustian-McIntosh-Silverův syndrom"]},"uk":{"name":"Синдром радіоульнарного синостозу-затримки розвитку-гіпотонії","synonyms":["Синдром Дер Калоустіана-Макінтоша-Сільвера"],"definition":"Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears)."},"zh":{"name":"桡尺骨融合-发育迟滞-低张力综合征","synonyms":["Der Kaloustian-McIntosh-Silver综合征"]},"tr":{"name":"Radioulnar sinostoz-gelişme geriliği-hipotoni sendromu","synonyms":["Der Kaloustian-McIntosh-Silver sendromu"]}},"xrefs":[{"source":"OMIM","code":"266255","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009952","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538217","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931776","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1810","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":93459,"name":"Syndrome with synostosis or other joint formation defect","classifications":[147,156,199]},{"orpha":139393,"name":"Syndromic craniosynostosis","classifications":[147,156,199]},{"orpha":98683,"name":"Syndromic disorder with strabismus","classifications":[189]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"1384331[PMID]_18618994[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_1384331[PMID]_18618994[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0007477","label":"Abnormal dermatoglyphics","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000174","label":"Abnormal palate morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003011","label":"Abnormality of the musculature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000364","label":"Hearing abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000275","label":"Narrow face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000448","label":"Prominent nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002974","label":"Radioulnar synostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000003","label":"Multicystic kidney dysplasia","frequency":"Frequent (79-30%)","criteria":null}]}}