{"orpha":319340,"name":"Carney complex-trismus-pseudocamptodactyly syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Carney complex variant"],"definition":"Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-319340/","orphanet_url":"https://www.orpha.net/en/disease/detail/319340","names":{"fr":{"name":"Syndrome complexe de Carney-trismus-pseudocamptodactylie","synonyms":["Variant du complexe de Carney"],"definition":"Un syndrome génétique rare affectant le coeur et les mains, caractérisé par les manifestations typiques du complexe de Carney (pigmentation tachetée de la peau, myxome familial cardiaque et cutané, endocrinopathie), associées à un trismus et une arthrogrypose distale (se manifestant par des contractions involontaires des articulations interphalangiennes distales et proximales au niveau des mains, évidentes seulement lors de la dorsiflexion des poignets, et des contractures similaires au niveau des membres inférieurs, produisant des déformations des pieds)."},"de":{"name":"Carney-Komplex-Trismus-Pseudokamptodaktylie-Syndrom","synonyms":["Carney-Komplex, Variante"],"definition":"Das Carney-Komplex-Trismus-Pseudokamptodaktylie-Syndrom ist ein seltenes genetisches Herz-Hand-Syndrom, das durch typische Manifestationen des Carney-Komplexes (fleckige Pigmentierung der Haut, familiäre kardiale und kutane Myxome und Endokrinopathie) in Verbindung mit Trismus und distaler Arthrogrypose gekennzeichnet ist. Die Arthrogrypose präsentiert sich durch unwillkürliche Kontraktion der distalen und proximalen Interphalangealgelenke der Hände (die nur bei Dorsalflexion des Handgelenks auftritt) sowie Kontrakturen der unteren Gliedmaßen (die zu Fußdeformitäten führen)."},"es":{"name":"Síndrome del complejo de Carney-trismo-pseudocamptodactilia","synonyms":["Variante del complejo de Carney"],"definition":"Es un síndrome genético corazón-mano poco frecuente caracterizado por las manifestaciones típicas del complejo de Carney (pigmentación cutánea moteada, mixomas cardiacos y cutáneos familiares y endocrinopatía) asociadas a trismo y artrogriposis distal (que se presenta como una contracción involuntaria de las articulaciones interfalángicas distales y proximales de las manos, siendo evidente únicamente en la dorsiflexión de la muñeca y contracturas similares de las extremidades inferiores que producen malformaciones del pie)."},"it":{"name":"Sindrome complesso di Carney, trismo, pseudocamptodattilia","synonyms":["Variante del complesso di Carney"],"definition":"La sindrome da complesso di Carney, trismo e pseudocamptodattilia è una sindrome genetica rara cuore-mano, caratterizzata dai segni clinici caratteristici del complesso di Carney (pigmentazione cutanea a chiazze, mixomi cardiaci e cutanei familiari ed endocrinopatia), associati a trismo e artrogriposi distale (che si manifesta con contrazioni involontarie delle articolazioni interfalangee distali e prossimali delle mani, evidenti solo alla dorsiflessione del polso, e analoghe contratture negli arti inferiori, con conseguenti deformità dei piedi)."},"nl":{"name":"Carney-complex - trismus - pseudocamptodactylie-syndroom","synonyms":["Variant van Carney-complex"],"definition":"Carneycomplex - trismus - pseudocamptodactylie-syndroom is een zeldzaam, genetisch hart-hand-syndroom dat gekarakteriseerd wordt door typische manifestaties van het Carneycomplex (vlekkerige pigmentatie van de huid, familiale cardiale en cutane myxomen, en endocrinopathie), geassocieerd met trismus en distale artrogrypose (die zich voordoet als onvrijwillige samentrekking van distale en proximale interfalangeale gewrichten van de handen, enkel merkbaar bij dorsaalflexie van de pols, en gelijkaardige contracturen van de onderste ledematen die voetmisvormingen teweegbrengen)."},"pt":{"name":"Síndrome do complexo de Carney-trismus-pseudocamptodactilia"},"pl":{"name":"Zespół kompleks Carney'a-szczękościsk-kamptodaktylia rzekoma","synonyms":["Wariant kompleksu Carney'a"]},"cs":{"name":"Syndrom zahrnující Carneyho komplex, trismus a pseudokamptodaktylii","synonyms":["Varianta Carneyho komplex"]},"uk":{"name":"Синдром ниркового комплексу-тризму-псевдокампактодактилії","synonyms":["Варіант карніального комплексу"],"definition":"Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities)."},"zh":{"name":"Carney综合征-牙关紧闭-假屈曲指综合征","synonyms":["Carney综合征变体"],"definition":"Carney综合征-牙关紧闭-假性甲状旁腺囊肿综合征是一种罕见的遗传性心脏-手综合征，其特征为Carney综合征的典型表现(皮肤斑点状色素沉着、家族性心脏和肤粘液瘤和内分泌病)，伴有牙关紧闭和远端关节挛缩(表现为手的远端和近端指间关节不自主收缩，仅在手腕背屈或相似下肢挛缩导致足部畸形时明显)。"},"tr":{"name":"Carney kompleksi-trismus-psödokamptodaktili sendromu","synonyms":["Carney kompleks varyantı"]}},"xrefs":[{"source":"OMIM","code":"608837","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q68.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A70.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0012137","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4553889","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":271841,"name":"Genetic cardiac tumor","classifications":[156]},{"orpha":183466,"name":"Genetic hyperpigmentation of the skin","classifications":[156]},{"orpha":228184,"name":"Heart-hand syndrome","classifications":[147,156,199]},{"orpha":79375,"name":"Hyperpigmentation of the skin","classifications":[187]},{"orpha":168194,"name":"Rare cardiac tumor","classifications":[146,202]}],"children":[],"genes":[{"symbol":"MYH8","name":"myosin heavy chain 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15282353[PMID]","hgnc":"7578","ensembl":"ENSG00000133020","omim":"160741","loci":["17p13.1"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"15282353[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_15282353[PMID]"}],"phenotypes":null}