{"orpha":486815,"name":"Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital muscular dystrophy, Davignon-Chauveau type"],"definition":"A rare congenital muscular dystrophy characterized by neonatal hypotonia, life-threatening respiratory failure, and feeding difficulties, furthermore by delayed motor development, severe muscle weakness predominantly affecting axial muscles (leading to poor head control, rigid cervical spine, and severe scoliosis), generalized joint laxity with no or mild contractures, as well as dry skin with follicular hyperkeratosis. Serum creatine kinase is normal or slightly elevated. Muscle biopsy shows fiber size variability, rounded fibers with mild increase of endomysial connective tissue and adipose replacement, abundant minicore lesions, increase of centrally located nuclei, angular fibers, and cap lesions.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-486815/","orphanet_url":"https://www.orpha.net/en/disease/detail/486815","names":{"fr":{"name":"Syndrome de dystrophie musculaire congénitale-atteinte respiratoire précoce-anomalies cutanées-hyperlaxité articulaire","synonyms":["Dystrophie musculaire congénitale, Davignon-Chauveau"],"definition":"Dystrophie musculaire congénitale rare caractérisée par une hypotonie néonatale, une insuffisance respiratoire engageant le pronostic vital, des difficultés à s'alimenter, ainsi que par un retard de développement moteur, une faiblesse musculaire sévère touchant principalement les muscles axiaux (entraînant un mauvais contrôle de la tête, une rigidité de la colonne cervicale et une scoliose sévère), une laxité articulaire généralisée avec de légères ou aucune contractures, et une sécheresse cutanée accompagnée d'une hyperkératose folliculaire. Les taux sériques de créatine kinase sont normaux ou légèrement élevés. La biopsie musculaire révèle des fibres arrondies de taille variable, une légère augmentation du volume de l'endomysium qui enveloppe les tissus conjonctifs et un remplacement du tissu adipeux, ainsi que de nombreux minicores, une augmentation du nombre de noyaux en position centrale, des fibres angulaires et des lésions de la chape fibreuse."},"de":{"name":"Kongenitale Muskeldystrophie-Atemversagen-Hautanomalien-Gelenkinstabilität-Syndrom","synonyms":["Muskeldystrophie, kongenitale, Typ Davignon-Chauveau"],"definition":"Eine seltene kongenitale Muskeldystrophie, die gekennzeichnet ist durch neonatale Hypotonie, lebensbedrohliche respiratorische Insuffizienz und Schwierigkeiten bei der Nahrungsaufnahme, verzögerte motorische Entwicklung, schwere Muskelschwäche, die hauptsächlich die axialen Muskeln betrifft (was zu schlechter Kopfkontrolle, steifer Halswirbelsäule und schwerer Skoliose führt), generalisierte Hypermobilität der Gelenke mit keinen oder leichten Kontrakturen und trockene Haut mit follikulärer Hyperkeratose. Die Kreatinkinase im Serum ist normal oder leicht erhöht. Die Muskelbiopsie zeigt eine Variabilität der Fasergröße, abgerundete Fasern mit einer leichten Zunahme des endomysialen Bindegewebes und des Fettgewebsersatzes, zahlreiche Minikernläsionen, eine Zunahme der zentralen Kerne, kantige Fasern und kappenförmige Läsionen."},"es":{"name":"Síndrome de distrofia muscular congénita-insuficiencia respiratoria-anomalías cutáneas-hiperlaxitud articular","synonyms":["Distrofia muscular congénita tipo Davignon-Chauveau"],"definition":"Es una distrofia muscular congénita poco frecuente caracterizada por hipotonía neonatal, insuficiencia respiratoria potencialmente mortal y dificultades de alimentación, además de un retraso del desarrollo motor, debilidad muscular grave que afecta predominantemente a los músculos axiales (lo que provoca un deficiente control de la cabeza, rigidez de la columna cervical y escoliosis grave), laxitud articular generalizada sin contracturas o con contracturas leves, así como piel seca con hiperqueratosis folicular. La creatinquinasa sérica es normal o está ligeramente elevada. La biopsia muscular muestra variabilidad en el tamaño de las fibras, fibras redondeadas con leve incremento del tejido conectivo endomisial y reemplazo por tejido adiposo, abundantes lesiones minicore, aumento de la centralización de los núcleos, fibras de forma angular y lesiones en capuchón."},"it":{"name":"Sindrome distrofia muscolare congenita - insufficienza respiratoria - anomalie della cute - iperlassità articolare","definition":"Si tratta di una distrofia muscolare congenita rara, caratterizzata da ipotonia neonatale, insufficienza respiratoria potenzialmente letale, difficoltà di alimentazione, ritardo dello sviluppo motorio, debolezza muscolare grave che interessa prevalentemente i muscoli assiali (con conseguente scarso controllo del capo, rigidità del tratto cervicale della colonna e scoliosi grave), lassità articolare generalizzata con contratture lievi o del tutto assenti, e cute secca con ipercheratosi follicolare. I livelli di creatin-chinasi nel siero sono normali o leggermente elevati. La biopsia muscolare evidenzia fibre di dimensioni variabili, fibre arrotondate con un lieve aumento del tessuto connettivo endomisiale e sostituzione adiposa, numerose lesioni minicore, aumento dei nuclei in posizione centrale, fibre angolari e lesioni del cappuccio fibroso."},"nl":{"name":"Congenitale musculaire dystrofie - respiratoir falen - huidafwijkingen - gewrichtshyperlaxiteit-syndroom","synonyms":["Congenitale musculaire dystrofie, Davignon-Chauveau-type","Congenitale spierdystrofie - ademhalingsfalen - huidafwijkingen - gewrichtshypermobiliteit-syndroom","Congenitale spierdystrofie, Davignon-Chauveau-type"],"definition":"Een zeldzame congenitale spierdystrofie, gekarakteriseerd door neonatale hypotonie, levensbedreigend respiratoir falen, en voedingsproblemen, alsook motorische ontwikkelingsachterstand, ernstige spierzwakte van vooral axiale spieren (met als gevolg moeite met controle van het hoofd, rigide cervicale wervelkolom, en ernstige scoliose), gegeneraliseerde gewrichtslaxiteit met geen of milde contracturen, en droge huid met folliculaire hyperkeratose. Het gehalte van creatinekinase in serum is normaal of licht verhoogd. Spierbiopsie toont vezels met variabele grootte, ronde vezels met milde toename van endomysiaal bindweefsel en vervanging door vetweefsel, abundante minicore-laesies, verhoogd aantal centraal gelokaliseerde nuclei, angulaire vezels, en cap-laesies."},"pt":{"name":"Síndrome de distrofia muscular congénita-insuficiência respiratória-anomalias cutâneas-hipermobilidade articular"},"pl":{"name":"Zespół wrodzonej dystrofii mięśniowej, niewydolności oddechowej, nieprawidłowości skórnych i wiotkości stawów","synonyms":["Wrodzona dystrofia mięśniowa, typ Davignon i Chauveau"]},"cs":{"name":"Syndrom zahrnující vrozenou svalovou dystrofii, respirační selhání, abnormality kůže a hyperlaxicitu kloubů","synonyms":["Congenital muscular dystrophy, Davignon-Chauveau type","Vrozená svalová dystrofie typ Davignon-Chauveau"]},"uk":{"name":"Синдром вродженої мязової дистрофії-дихальної недостатності-аномалії шкіри-гіперлабільності суглобів","synonyms":["Вроджена мязова дистрофія, тип Давіньйон-Шово"],"definition":"A rare congenital muscular dystrophy characterized by neonatal hypotonia, life-threatening respiratory failure, and feeding difficulties, furthermore by delayed motor development, severe muscle weakness predominantly affecting axial muscles (leading to poor head control, rigid cervical spine, and severe scoliosis), generalized joint laxity with no or mild contractures, as well as dry skin with follicular hyperkeratosis. Serum creatine kinase is normal or slightly elevated. Muscle biopsy shows fiber size variability, rounded fibers with mild increase of endomysial connective tissue and adipose replacement, abundant minicore lesions, increase of centrally located nuclei, angular fibers, and cap lesions."},"zh":{"name":"先天性肌营养不良-呼吸衰竭-皮肤异常-关节松弛症","synonyms":["先天性肌营养不良Davignon-Chauveau型"]},"tr":{"name":"Doğumsal kas distrofisi-solunum yetmezliği-deri anormallikleri-eklem hiperlaksite sendromu","synonyms":["Doğumsal kas distrofisi, Davignon-Chauveau tipi"]}},"xrefs":[{"source":"OMIM","code":"617066","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014896","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4310736","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":97242,"name":"Congenital muscular dystrophy","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"TRIP4","name":"thyroid hormone receptor interactor 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27008887[PMID]","hgnc":"12310","ensembl":"ENSG00000103671","omim":"604501","loci":["15q22.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"27008887[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27008887[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-06-25","source":"27008887[PMID]","terms":[{"hpo":"HP:0003458","label":"EMG: myopathic abnormalities","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0007502","label":"Follicular hyperkeratosis","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002747","label":"Respiratory insufficiency due to muscle weakness","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0010647","label":"Abnormal elasticity of skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003687","label":"Centrally nucleated skeletal muscle fibers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011471","label":"Gastrostomy tube feeding in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003557","label":"Increased variability in muscle fiber diameter","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003690","label":"Limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003789","label":"Minicore myopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000467","label":"Neck muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002421","label":"Poor head control","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003306","label":"Spinal rigidity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008180","label":"Mildly elevated creatine kinase","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002828","label":"Multiple joint contractures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025502","label":"Overweight","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008081","label":"Pes valgus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001612","label":"Weak cry","frequency":"Occasional (29-5%)","criteria":null}]}}