{"orpha":3268,"name":"Radioulnar synostosis-microcephaly-scoliosis syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Giuffré-Tsukahara syndrome","Tsukahara syndrome"],"definition":"A rare syndrome with synostosis and limb malformations, characterized by radioulnar synostosis, short stature, microcephaly, scoliosis and intellectual disability. Majority of the patients also have clinodactyly (and sometimes brachymesophalangy) of the fifth fingers, syndactyly and brachydactyly of fingers. Joint laxity of the fingers and knees can also be present. Additional clinical features may include global developmental/psychomotor delay (notably speech delay), attention deficit, hyperactivity and variable dysmorphic features (including hypotelorism, prominent eyes and nose and dysmorphic ears).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3268/","orphanet_url":"https://www.orpha.net/en/disease/detail/3268","names":{"fr":{"name":"Syndrome de synostose radio-ulnaire-microcéphalie-scoliose","synonyms":["Syndrome de Giuffré-Tsukahara","Syndrome de Tsukahara"],"definition":"Syndrome rare avec synostose et malformations des membres, caractérisé par une synostose radio-ulnaire, une petite taille, une microcéphalie, une scoliose et une déficience intellectuelle. La majorité des patients présentent également une clinodactylie (et parfois une brachymésophalangie) des 5<sup>es</sup> doigts, une syndactylie et une brachydactylie des doigts. Une laxité articulaire des doigts et des genoux peut également s'observer. Les autres signes cliniques peuvent être un retard global de développement/psychomoteur (notamment un retard de langage), un déficit de l'attention, une hyperactivité et une dysmorphie inconstante (notamment un hypotélorisme, des yeux et un nez protubérants et des oreilles dysmorphiques)."},"de":{"name":"Radioulnare Synostose-Mikrozephalie-Skoliose-Syndrom","synonyms":["Giuffré-Tsukahara-Syndrom","Tsukahara-Syndrom"],"definition":"Ein seltenes Fehlbildungssyndrom, das gekennzeichnet ist durch radioulnare Synostose, Kleinwuchs, Mikrozephalie, Skoliose und Intelligenzminderung. Die Mehrheit der Patienten hat auch Klinodaktylie (und manchmal Brachymesophalangie) der fünften Finger, Syndaktylie und Brachydaktylie der Finger. Eine Gelenkhypermobilität der Finger und Knie kann ebenfalls vorhanden sein. Zu den weiteren klinischen Merkmalen können eine globale Entwicklungsverzögerung/Psychomotorik (insbesondere Sprachverzögerung), Aufmerksamkeitsdefizite, Hyperaktivität und unterschiedliche dysmorphe Merkmale (einschließlich Hypotelorismus, hervorstehende Augen und Nase sowie dysmorphe Ohren) gehören."},"es":{"name":"Síndrome de sinostosis radiocubital-microcefalia-escoliosis","synonyms":["Síndrome de Giuffré-Tsukahara","Síndrome de Tsukuhara"],"definition":"Es un síndrome poco frecuente con sinostosis y malformaciones en las extremidades caracterizado por sinostosis radiocubital, talla baja, microcefalia, escoliosis y discapacidad intelectual. La mayoría de los pacientes presenta clinodactilia (y en ocasiones braquimesofalangia) del quinto dedo de la mano, así como sindactilia y braquidactilia. También puede asociar laxitud articular de los dedos de las manos y de las rodillas. Otras características clínicas pueden incluir retraso global del desarrollo/psicomotor (especialmente retraso del habla), déficit de atención, hiperactividad y rasgos dismórficos variables (como hipotelorismo, ojos y nariz prominentes y orejas dismórficas)."},"it":{"name":"Sindrome sinostosi radioulnare-microcefalia-scoliosi","synonyms":["Sindrome di Giuffré-Tsukahara","Sindrome di Tsukahara"],"definition":"La sindrome sinostosi radioulnare-microcefalia-scoliosi, nota anche come sindrome di Giuffré-Tsukahara, è una sindrome molto rara caratterizzata dall'associazione tra la sinostosi radioulnare, la microcefalia, la scoliosi, la bassa statura e il deficit cognitivo."},"nl":{"name":"Radio-ulnaire synostose - microcefalie - scoliose-syndroom","synonyms":["Syndroom van Giuffré-Tsukahara","Syndroom van Tsukahara"],"definition":"Een zeldzaam syndroom met synostose en ledemaatmalformaties, gekenmerkt door radio-ulnaire synostose, kleine gestalte, microcefalie, scoliose en intellectuele achterstand. De meerderheid van de patiënten heeft ook clinodactylie (en soms brachymesofalangie) van de vijfde vingers, en syndactylie en brachydactylie van vingers. Gewrichtslaxiteit van vingers en knieën kan ook aanwezig zijn. Mogelijke bijkomende klinische kenmerken zijn onder meer ontwikkelingsachterstand en psychomotorische achterstand (in het bijzonder spraakachterstand), aandachtstekort, hyperactiviteit en variabele dysmorfe kenmerken (waaronder hypotelorisme, prominente ogen en neus, en dysmorfe oren)."},"pt":{"name":"Síndrome de sinostose radio-cubital-microcefalia-escoliose","synonyms":["Síndrome Tsukuhara"]},"pl":{"name":"Synostoza - małogłowie - skolioza","synonyms":["Zespół Giuffré i Tsukahara","Zespół Tsukahara"],"definition":"Rzadka postać zespołu z synostozą i wadami kończyn, charakteryzująca się synostozą promieniowo-łokciową, niskim wzrostem, małogłowiem, skoliozą oraz niepełnosprawnością intelektualną. U większości pacjentów występuje również klinodaktylia (a czasami skróceniem środkowych paliczków palców rąk) piątego palca, syndaktylia oraz brachydaktylia palców. Może występować nadmierna ruchomość stawów palców i kolan. Dodatkowe cechy to globalne opóźnienie rozwoju psychoruchowego (w tym mowy), deficyt uwagi, nadpobudliwość oraz zmienne cechy dysmorficzne, w tym hipoteloryzm, wyłupiaste oczy i wydatny nos oraz dysmorficzne uszy."},"cs":{"name":"Syndrom zahrnující radioulnární synostózu, mikrocefalii a skoliózu","synonyms":["Giuffrého-Tsukaharův syndrom","Tsukaharův syndrom","Giuffré-Tsukaharův syndrom"]},"uk":{"name":"Синдром радіоульнарного синостозу-мікроцефалії-сколіозу","synonyms":["Синдром Жюффре-Цукахара","Синдром Цукахара"],"definition":"Radioulnar synostosis-microcephaly-scoliosis syndrome, also known as Guiffré-Tsukahara syndrome, is an extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit."},"zh":{"name":"桡尺骨融合-小头畸形-脊柱侧凸综合征","synonyms":["Giuffré-Tsukahara综合征"]},"tr":{"name":"Radioulnar sinostoz-mikrosefali-skolyoz sendromu","synonyms":["Tsukahara sendromu","Giuffré-Tsukahara sendromu"]}},"xrefs":[{"source":"OMIM","code":"603438","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011320","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566376","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3150890","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"394","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93459,"name":"Syndrome with synostosis or other joint formation defect","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":13.0,"area":"Worldwide","status":"Validated","source":"20635354[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20635354[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:0000772","label":"Abnormal rib morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009811","label":"Abnormality of the elbow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000288","label":"Abnormality of the philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002974","label":"Radioulnar synostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Very frequent (99-80%)","criteria":null}]}}