{"orpha":1184,"name":"Ataxia-photosensitivity-short stature syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Fenton-Wilkinson-Toselano syndrome"],"definition":"A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additonal features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1184/","orphanet_url":"https://www.orpha.net/en/disease/detail/1184","names":{"fr":{"name":"Syndrome d'ataxie-photosensibilité-petite taille","synonyms":["Syndrome de Fenton-Wilkinson-Toselano"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare d'origine génétique caractérisé par une ataxie de type cérébelleux, une photosensibilité (principalement de la peau du visage et du tronc), une petite taille et une déficience intellectuelle. Les autres caractéristiques sont une clinodactylie, un pli palmaire transverse unique, un palais ogival, une pseudohypertrophie des mollets et des lésions de la valve aortique. Aucun cas n'a été décrit dans la littérature depuis 1983."},"de":{"name":"Ataxie-Lichtempfindlichkeit-Kleinwuchs-Syndrom","synonyms":["Fenton-Wilkinson-Toselano-Syndrom"]},"es":{"name":"Síndrome de ataxia-fotosensibilidad-talla baja","synonyms":["Síndrome de Fenton-Wilkinson-Toselano"],"definition":"Es un síndrome dismórfico/ por múltipleas anomalías de origen genético y poco frecuente, caracterizado por ataxia cerebelosa, fotosensibilidad (principalmente en la cara y tronco), talla baja y discapacidad intelectual. Otras características adicionales incluyen clinodactilia, pliegue palmar transversal único, paladar ojival y pseudohipertrofia de las pantorrillas, así como lesiones de la válvula aórtica. No se han descrito más casos en la literatura desde 1983."},"it":{"name":"Sindrome atassia, fotosensibilità e bassa statura","synonyms":["Sindrome di Fenton-Wilkinson-Toselano"],"definition":"La sindrome che associa l'atassia, la fotosensibilità e la bassa statura è una malattia genetica rara da anomalie/dismorfismi congeniti multipli, caratterizzata da atassia simil-cerebellare, fotosensibilità (soprattutto a livello del viso e del tronco), bassa statura e disabilità intellettiva. Altri segni clinici sono la clinodattilia, la piega palmare trasversale unica, il palato ogivale, la pseudoipertrofia dei polpacci e le lesioni della valvola aortica. Non sono stati descritti nuovi casi dopo il 1983."},"nl":{"name":"Ataxie - fotosensitiviteit - kleine gestalte-syndroom","synonyms":["Syndroom van Fenton-Wilkinson-Toselano"],"definition":"Een zeldzaam, genetisch meervoudige congenitale anomalieën/dysmorfie-syndroom, gekarakteriseerd door cerebellair-achtige ataxie, lichtgevoeligheid (voornamelijk van aangezicht en romp), kleine gestalte, en intellectuele achterstand. Bijkomende kenmerken zijn onder meer clinodactylie, enkelvoudige transversale handlijn op de handpalm, hoog gebogen verhemelte, pseudohypertrofie van de kuiten en laesies van de aortaklep. Sinds 1983 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de ataxia-fotossensibilidade-baixa estatura","synonyms":["Síndrome Fenton-Wilkinson-Toselano"]},"pl":{"name":"Ataksja - wrażliwość na światło - niski wzrost","synonyms":["Zespół Fentona, Wilkinsona i Toselano"],"definition":"*Zespół ataksji, nadwrażliwości na światło i niskiego wzrostu jest rzadkim, genetycznie uwarunkowanym zespołem licznych wad wrodzonych/zespołem dysmorficznym, który charakteryzuje się ataksją móżdżkową, nadwrażliwością na światło (głównie skóry twarzy i tułowia), niskim wzrostem i niepełnosprawnością intelektualną. Objawy dodatkowe to klinodaktylia, pojedyncza poprzeczna bruzda dłoni, wysokie podniebienie, rzekomy przerost łydek i nieprawidłowości zastawki aortalnej. W literaturze od 1983 roku nie ma nowych opisów."},"cs":{"name":"Syndrom zahrnující ataxii, fotosenzitivitu a malý vzrůst","synonyms":["Fentonův-Wilkinsonův-Toselandův syndrom","Fenton-Wilkinson-Toselandův syndrom"]},"uk":{"name":"Синдром атаксії-світлочутливості-низького зросту","synonyms":["Синдром Фентона-Вілкінсона-Тоселано"],"definition":"A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additonal features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983."},"zh":{"name":"共济失调-光敏感-身材矮小综合征","synonyms":["Fenton-Wilkinson-Toselano综合征"]},"tr":{"name":"Ataksi-fotosensitivite-kısa boy sendromu","synonyms":["Fenton-Wilkinson-Toselano sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0015248","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4751230","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2287","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":183518,"name":"Hereditary ataxia","classifications":[156,181]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"6620277[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_6620277[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","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:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000992","label":"Cutaneous photosensitivity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001025","label":"Urticaria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002967","label":"Cubitus valgus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null}]}}