{"orpha":163654,"name":"Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SED-BDS","Spondyloepiphyseal dysplasia, Cantu type","Tattoo dysplasia"],"definition":"Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-163654/","orphanet_url":"https://www.orpha.net/en/disease/detail/163654","names":{"fr":{"name":"Syndrome de dysplasie spondylo-épiphysaire-brachydactylie-trouble du langage","synonyms":["Dysplasie spondylo-épiphysaire, type Cantu"],"definition":"Type extrêmement rare de dysplasie spondylo-épiphysaire décrit chez environ 5 patients à ce jour et caractérisé par des signes cliniques tels qu'une petite taille, un visage aux traits particuliers avec blépharophimose, des fentes palpébrales orientées vers le haut, des sourcils et des cils abondants, une voix grave et des mains et des pieds courts (brachymétacarpie, brachymétatarsie et brachyphalangie)."},"de":{"name":"Spondyloepiphysäre Dysplasie-Brachydaktylie-Sprachstörung-Syndrom","synonyms":["SED-BDS","Spondyloepiphysäre Dysplasie, Typ Cantu","Tattoo-Dysplasie"],"definition":"Die Spondyloepiphysäre Dysplasie Typ Cantu ist ein extrem seltener Typ der Spondyloepiphysären Dysplasie (s. dort) und wurde bisher bei etwa 5 Patienten beschrieben. Charakteristische klinische Zeichen sind Kleinwuchs, auffälliges Gesicht (Blepharophimose, schräg aufwärts gerichtete Lidspalten, üppige Augenbrauen und Wimpern), raue Stimme und kurze Hände und Füße (verkürzte Metacarpalia, Metatarsalia und Phalangen)."},"es":{"name":"Síndrome de displasia espondiloepifisaria-braquidactilia-trastorno del habla","synonyms":["Displasia en tatuaje","Displasia espondiloepifisaria tipo Cantu"],"definition":"La displasia espondiloepifisaria tipo Cantu es un tipo extremadamente poco frecuente de displasia espondiloepifisaria (consulte este término), descrito en unos 5 pacientes hasta la fecha, que se caracteriza por signos clínicos que incluyen estatura baja, facies peculiar con blefarofimosis, ojos rasgados hacia arriba, cejas y pestañas abundantes, voz ronca, y manos y pies cortos (braquimetacarpalia, braquimetatarsalia y braquifalangia)."},"it":{"name":"Sindrome da displasia spondiloepifisaria-brachidattilia-disturbo del linguaggio","synonyms":["Displasia a tatuaggio","Displasia spondiloepifisaria, tipo Cantu","SED-BDS"],"definition":"La displasia spondiloepifisaria tipo Cantu è una forma estremamente rara di displasia spondiloepifisaria (si veda questo termine), descritta finora in circa 5 pazienti; è caratterizzata da bassa statura, facies caratteristica con blefarofimosi, occhi obliqui verso l'alto, sopracciglia e ciglia abbondanti, voce roca e mani e piedi corti (brachimetacarpia, brachimetatarsia e brachifalangia)."},"nl":{"name":"Spondylo-epifysaire dysplasie - brachydactylie - spraakstoornis-syndroom","synonyms":["SED-BDS","Spondylo-epifysaire dysplasie, Cantu-type","Tattoo-dysplasie"],"definition":"Een uiterst zeldzaam type van spondylo-epifysaire dysplasie, tot op heden beschreven bij ongeveer 5 patiënten, en gekenmerkt door klinische verschijnselen waaronder kleine gestalte, afwijkend gelaat met blefarofimose, naar boven hellende ooglidspleten, overvloedige wenkbrauwen en wimpers, hese stem, en korte handen en voeten (korte metacarpalen, metatarsalen en falangen)."},"pt":{"name":"Síndrome de displasia espondiloepifisária-braquidactilia-perturbação da linguagem","synonyms":["Displasia espondiloepifisária, tipo Cantu","Displasia tattoo","SED-BDS"]},"pl":{"name":"Dysplazja kręgowo-nasadowa, typ Cantu","synonyms":["Dysplazja kręgowo-nasadowa - brachydaktylia - zaburzenia mowy","Dysplazja Tattoo","SED-BDS","Zespół Fantasy Island"]},"cs":{"name":"Spondyloepifyzární dysplázie, Cantuův typ","synonyms":["SED-BDS","Tattoova dysplázie","Syndrom zahrnující spondyloepifyzární dysplázii, brachydaktylii a poruchy řeči"]},"uk":{"name":"Спондилоепіфізарна дисплазія-брахідактилія-синдром розладу мовлення","synonyms":["SED-BDS","Спондилоепіфізарна дисплазія, тип Канту","Дисплазія татуювання"],"definition":"Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia)."},"zh":{"name":"Cantu 型脊柱骨骺发育不良","synonyms":["脊柱骨骺发育不良-短指-言语障碍综合征"],"definition":"Cantu型脊椎骨骺发育不良是脊椎骨骺发育不良(见该词条)的一种极为罕见类型，至今约有5例患者描述，其临床症状包括身材矮小，具有眼睑裂狭小、双眼向上倾斜、眉毛睫毛过于浓密的面容异常，声音粗和手足短小(掌骨过短、跖骨过短和指趾骨过短)。"},"tr":{"name":"Spondiloepifizyal displazi, Cantu tipi","synonyms":["SED-BDS","Dövme displazisi","Spondiloepifizeal displazi-brakidaktili-konuşma bozukluğu sendromu"]}},"xrefs":[{"source":"OMIM","code":"611717","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"897226700"},{"source":"MONDO","code":"0012716","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567128","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2673649","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10629","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":253,"name":"Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"17515304[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_17515304[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-05-29","source":"17515304[PMID]","terms":[{"hpo":"HP:0001832","label":"Abnormal metatarsal morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000174","label":"Abnormal palate morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000306","label":"Abnormality of the chin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001608","label":"Abnormality of the voice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009103","label":"Aplasia/Hypoplasia involving the pelvis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005622","label":"Broad long bones","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000475","label":"Broad neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002967","label":"Cubitus valgus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004634","label":"Cuboid-shaped vertebral bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007665","label":"Curly eyelashes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002212","label":"Curly hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100625","label":"Enlarged thorax","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009937","label":"Facial hirsutism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008839","label":"Hypoplastic pelvis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006394","label":"Limited pronation/supination of forearm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002162","label":"Low posterior hairline","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008496","label":"Multiple rows of eyelashes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002164","label":"Nail dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011829","label":"Narrow philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005069","label":"Rhizo-meso-acromelic limb shortening","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003026","label":"Short long bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010306","label":"Short thorax","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000179","label":"Thick lower lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000215","label":"Thick upper lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null}]}}