{"orpha":2952,"name":"Adducted thumbs-arthrogryposis syndrome, Christian type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism ('myopathic' stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, microgenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases have been described since 1983.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2952/","orphanet_url":"https://www.orpha.net/en/disease/detail/2952","names":{"fr":{"name":"Syndrome des pouces en adduction-arthrogrypose, type Christian","definition":"Le syndrome des pouces en adduction-arthrogrypose, type Christian est un type d'arthrogrypose caractérisé par une fente palatine congénitale, une microcéphalie, une craniosténose et une arthrogrypose (limitation de l'extension des coudes, pouces fléchis en adduction, camptodactylie et pieds bots). Les signes additionnels incluent une dysmorphie faciale (faciès rigide « myopathique », des fentes palpébrales obliques en bas et en dehors, ophtalmoplégie externe, télécanthus, grandes oreilles basses-implantées mal ourlées, bouche ouverte, microgénie et palais ogival). Une insuffisance vélopharyngée avec dysphagie, une sécrétion augmentée du nez et de la gorge, un occiput proéminent, une hypotonie musculaire généralisée avec une cyanose modérée et l'absence de mouvements spontanés, une aréflexie, des convulsions, une déficience intellectuelle, un torticolis, une hypertrichose des extrémités inférieures et un scléroedème (au cours des premiers jours de vie) sont également observés. La maladie est souvent fatale précocement. La transmission est autosomique récessive. Aucun nouveau cas n'a été décrit depuis 1983."},"de":{"name":"Adduzierte Daumen-Arthrogrypose-Syndrom Typ Christian"},"es":{"name":"Síndrome de pulgares en aducción-artrogriposis, tipo Christian","definition":"Es un tipo de artrogriposis caracterizada por paladar hendido congénito, microcefalia, craneostenosis y artrogriposis (limitación de la extensión de los codos, pulgares flexionados y aducidos, camptodactilia y pie equinovaro). Otras características adicionales incluyen dismorfia facial (cara rígida \"miopática'', inclinación antimongoloide de las hendiduras palpebrales, oftalmoplejía externa, telecanto, orejas grandes y malrotadas y de implantación baja, boca abierta, microgenia y paladar ojival). También se ha descrito insuficiencia velofaríngea con dificultades para tragar, secreción aumentada de la nariz y la garganta, occipucio prominente, hipotonía muscular generalizada con ligera cianosis y sin movimientos espontáneos, crisis epilépticas, tortícolis, arreflexia, discapacidad intelectual, hipertricosis de las extremidades inferiores y escleredema (en los primeros días de vida (ver este término). La enfermedad conduce a menudo a la muerte prematura. La transmisión es autosómica recesiva. No se han descrito nuevos casos en la literatura desde 1983."},"it":{"name":"Sindrome pollici addotti-artrogriposi, tipo Christian"},"nl":{"name":"Geadduceerde duimen - artrogrypose-syndroom, Christian-type","definition":"Een type van artrogrypose, gekarakteriseerd door congenitaal gespleten verhemelte, microcefalie, craniostenose en artrogrypose (beperkte strekking van ellebogen, gebogen geadduceerde duimen, camptodactylie en klompvoeten). Bijkomende kenmerken zijn onder meer faciale dysmorfie ('myopathisch' stijf gelaat, antimongoloïde ooglidspleten, uitwendige oftalmoplegie, telecanthus, laagstaande en verkeerd geroteerde oren, open mond, microgenie en hoog gebogen verhemelte). Velofaryngeale insufficiëntie met slikproblemen, verhoogde secretie uit neus en keel, prominent achterhoofd, gegeneraliseerde spierhypotonie met milde cyanose en geen spontane bewegingen, insulten, torticollis, areflexie, intellectuele achterstand, hypertrichose van onderste ledematen, en scleroedeem (tijdens de eerste levensdagen; zie deze term) worden ook waargenomen. De ziekte leidt vaak tot vroegtijdig overlijden. De overdracht gebeurt autosomaal recessief. Sinds 1983 werden geen nieuwe gevallen meer beschreven."},"pt":{"name":"Síndrome de polegares adutos-artrogripose, tipo Christian"},"pl":{"name":"Zespół przywiedzionych kciuków i artrogrypozy, typ Christiana"},"cs":{"name":"Syndrom zahrnující addukované palce na rukou a artrogrypózu, Christianův typ"},"uk":{"name":"Синдром доданих великих пальців рук-артрогрипозу, тип Крістіану","definition":"A type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism ('myopathic' stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, mierogenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life; see this term) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases have been described since 1983."},"zh":{"name":"拇指内收-关节挛缩综合征，Christian型"},"tr":{"name":"Addukte başparmak-artrogripozis sendromu, Christian tipi"}},"xrefs":[{"source":"OMIM","code":"201550","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q74.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008724","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304055","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10277","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":1037,"name":"Arthrogryposis multiplex congenita","classifications":[147,156]},{"orpha":728642,"name":"Genetic syndrome or malformation associated with head and neck malformations","classifications":[156]},{"orpha":156237,"name":"Syndrome or malformation associated with head and neck malformations","classifications":[147,200,209]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"6662143[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_6662143[PMID]"}],"phenotypes":null}