{"orpha":2953,"name":"Musculocontractural Ehlers-Danlos syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Adducted thumb-clubfoot syndrome","Distal arthrogryposis with peculiar facies and hydronephrosis","Dündar syndrome","Ehlers-Danlos syndrome, Kosho type","Musculocontractural EDS","mcEDS"],"definition":"A rare systemic disease characterized by congenital multiple contractures, characteristic craniofacial features (like large fontanel, hypertelorism, downslanting palpebral fissures, blue sclerae, ear deformities, high palate) evident at birth or in early infancy, and characteristic cutaneous features like skin hyperextensibility, skin fragility with atrophic scars, easy bruising, and increased palmar wrinkling. Additional features include recurrent/chronic dislocations, chest and spinal deformities, peculiarly shaped fingers, colonic diverticula, pneumothorax, and urogenital and ophthalmological abnormalities, among others. Molecular testing is obligatory to confirm the diagnosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2953/","orphanet_url":"https://www.orpha.net/en/disease/detail/2953","names":{"fr":{"name":"Syndrome d'Ehlers-Danlos musculocontractural","synonyms":["Arthrogrypose distale avec faciès caractéristique et hydronéphrose","EDS musculocontractural","SED musculocontractural","SEDmc","Syndrome d'Ehlers-Danlos type Kosho","Syndrome de Dündar","Syndrome des pouces en adduction-pieds bots"],"definition":"Maladie systémique rare caractérisée par les contractures multiples congénitales, les caractéristiques craniofaciales (une fontanelle large, un hypertélorisme, des fentes palpébrales inclinées vers le bas, des sclérotiques bleutées, des déformations de l'oreille, un palais haut) évidentes à la naissance ou au début de la petite enfance, et les caractéristiques cutanées, telles qu'une hyperextensibilité et une fragilité de la peau donnant lieu à des cicatrices atrophiées, une tendance aux ecchymoses et une augmentation des rides palmaires. Parmi les autres caractéristiques figurent notamment, les dislocations récurrentes/chroniques, les déformations de la poitrine et de la colonne vertébrale, une forme particulière de doigts, la diverticulite du côlon, le pneumothorax et les anomalies urogénitales et ophtalmologiques. Des tests moléculaires sont nécessaires pour confirmer le diagnostic."},"de":{"name":"Ehlers-Danlos-Syndrom, muskulo-kontrakturaler Typ","synonyms":["Adduzierte Daumen-Klumpfuß-Syndrom","Distale Arthrogrypose mit Gesichtsdysmorphie und Hydronephrose","Dundar-Syndrom","EDS Typ Kosho","EDS, muskulo-kontrakturaler Typ","Ehlers-Danlos-Syndrom Typ Kosho","Muskulo-kontrakturales Ehlers-Danlos-Syndrom","mcEDS"],"definition":"Eine seltene Systemerkrankung mit angeborenen multiplen Kontrakturen, charakteristischen kraniofazialen Merkmalen und typischen Hauterscheinungen. Bereits bei der Geburt oder im frühen Säuglingsalter sind typische Merkmale wie große Fontanelle, Hypertelorismus, schräg nach unten verlaufende Lidspalten, blaue Skleren, Ohrdeformitäten, hoher Gaumen und charakteristische Hautmerkmale wie Überdehnbarkeit der Haut, Brüchigkeit der Haut mit atrophischen Narben, leichte Hämatome und verstärkte Faltenbildung der Handflächen erkennbar. Weitere Manifestationen umfassen u. a. rezidivierende/chronische Dislokationen, Brust- und Wirbelsäulendeformitäten, ungewöhnlich geformte Finger, Kolondivertikel, Pneumothorax sowie urogenitale und ophthalmologische Anomalien. Molekulargenetische Untersuchungen sichern die Diagnose."},"es":{"name":"Síndrome de Ehlers-Danlos musculocontractural","synonyms":["Artrogriposis distal con facies característica e hidronefrosis","SED musculocontractural","Síndrome de Dündar","Síndrome de Ehlers-Danlos tipo Kosho","Síndrome de pulgares en aducción-pie zambo"],"definition":"Es una enfermedad sistémica poco frecuente caracterizada por contracturas congénitas múltiples, rasgos craneofaciales distintivos (como fontanela agrandada, hipertelorismo, fisuras palpebrales inclinadas hacia abajo, escleróticas azules, deformidad del pabellón auricular, paladar ojival) evidentes al nacimiento o en la lactancia temprana, así como hallazgos cutáneos característicos (hiperextensibilidad de la piel, fragilidad cutánea con cicatrices atróficas, propensión a hematomas y un aumento del número de surcos palmares). Otros hallazgos adicionales incluyen luxaciones crónicas o recurrentes, deformidades torácicas y de la columna vertebral, dedos de las manos con forma peculiar, divertículos colónicos, neumotórax y anomalías urogenitales y oculares, entre otros. Las pruebas moleculares son necesarias para la confirmación diagnóstica."},"it":{"name":"Sindrome di Ehlers-Danlos muscolo-contratturale","synonyms":["Artrogriposi distale con facies caratteristica e idronefrosi","EDS, tipo muscolo-contratturale","Sindrome di Dündar","Sindrome di Ehlers-Danlos, tipo Kosho","Sindrome pollice addotto-piede torto","mcEDS"],"definition":"Si tratta di una malattia sistemica rara, caratterizzata da contratture multiple congenite, dismorfismi craniofacciali caratteristici (fontanella ampia, ipertelorismo, rime palpebrali oblique verso il basso, sclere blu, deformità dell'orecchio, palato ogivale) congeniti o ad esordio nella prima infanzia, associati a segni cutanei tipici (iperestensibilità e fragilità della cute con cicatrici atrofiche, tendenza alle ecchimosi e aumento della rugosità suli palmo delle mani). Altri segni clinici sono le dislocazioni ricorrenti/croniche, le deformità del torace e della colonna vertebrale, la forma caratteristica delle dita delle mani, i diverticoli del colon, lo pneumotorace, e le anomalie urogenitali e oculari. Le analisi molecolari confermano la diagnosi."},"nl":{"name":"Musculocontracturaal syndroom van Ehlers-Danlos","synonyms":["Distale artrogrypose met abnormaal gelaat en hydronefrose","Geadduceerde duim - klompvoet-syndroom","Musculocontracturaal EDS","Syndroom van Dünbar","Syndroom van Ehlers-Danlos, Kosho-type","mcEDS"],"definition":"Een zeldzame systemische ziekte, gekarakteriseerd door congenitale multipele contracturen, typische craniofaciale kenmerken (zoals groot fontanel, hypertelorisme, schuin naar beneden hellende ooglidspleten, blauwe sclerae, oormisvormingen, hoog verhemelte) die merkbaar zijn bij de geboorte of in de vroege zuigelingentijd, en typische cutane kenmerken zoals hyperelastische huid, fragiliteit van huid met atrofische littekens, gevoeligheid voor kneuzing, en toegenomen verrimpeling van handpalmen. Bijkomende kenmerken zijn onder meer terugkerende/chronische dislocaties, misvormingen van borstkas en wervelkolom, eigenaardig gevormde vingers, divertikels van colon, klaplong, en urogenitale en oftalmologische anomalieën. Moleculair testen is vereist om de diagnose te bevestigen."},"pt":{"name":"Síndrome Ehlers-Danlos músculo-contractural","synonyms":["Síndrome Dündar","Síndrome Ehlers-Danlos, tipo Kosho"]},"pl":{"name":"Zespół Ehlersai Danlosa mięśniowo-przykurczowy","synonyms":["Zespół Ehlersa i Danlosa z niedoborem D4ST1","Zespół Ehlersa i Danlosa związany z CHST14","Zespół Ehlersa i Danlosa, typu artrogrypozy","Zespół Ehlersa i Danlosa, typu Kosho","Zespół przywiedzionych kciuków i stopy końsko-szpotawej","Zespół przywiedzionych kciuków i stopy końsko-szpotawej, typu Dundar"]},"cs":{"name":"Ehlersův-Danlosův syndrom, typ se svalovými kontrakturami","synonyms":["ATCS","Syndrom zahrnující addukovaný palec a pes equinovarus congenitus","CHST14-vázaný EDS","D4ST1-deficientní EDS","EDS, artrogryposický typ","EDS, typ se svalovými kontrakcemi","Syndrom zahrnující addukované palce a artrogrypózu, Dundarův typ","CHST14-vázaný Ehlersův-Danlosův syndrom","D4ST1-deficientní Ehlersův-Danlosův syndrom","EDS, Koshoův typ","Ehlersův-Danlosův syndrom, Koshoův typ","Ehlersův-Danlosův syndrom, artrogryposický typ","Ehlers-Danlosův syndrom, typ se svalovými kontrakturami","CHST14-vázaný Ehlers-Danlosův syndrom","D4ST1-deficientní Ehlers-Danlosův syndrom","Ehlers-Danlosův syndrom, Koshoův typ","Ehlers-Danlosův syndrom, artrogryposický typ"]},"uk":{"name":"Мязово-контрактурний синдром Елерса-Данлоса","synonyms":["Синдром доданого великого пальця-кісточки стопи","Дистальний артрогрипоз зі своєрідною фасцією та гідронефрозом","Синдром Дюндара","Синдром Елерса-Данлоса, тип Кошо","mcEDS","Мязово-контрактурний EDS"],"definition":"A rare systemic disease characterized by congenital multiple contractures, characteristic craniofacial features (like large fontanel, hypertelorism, downslanting palpebral fissures, blue sclerae, ear deformities, high palate) evident at birth or in early infancy, and characteristic cutaneous features like skin hyperextensibility, skin fragility with atrophic scars, easy bruising, and increased palmar wrinkling. Additional features include recurrent/chronic dislocations, chest and spinal deformities, peculiarly shaped fingers, colonic diverticula, pneumothorax, and urogenital and ophthalmological abnormalities, among others. Molecular testing is obligatory to confirm the diagnosis."},"zh":{"name":"Musculocontractural Ehlers-Danlos综合征","synonyms":["远端关节挛缩伴特殊面容及肾盂积水"]},"tr":{"name":"Muskülokontraktürel Ehlers-Danlos sendromu","synonyms":["mcEDS","Dündar sendromu","Bağımlı başparmak-çarpık ayak sendromu","Ehlers-Danlos sendromu, Kosho tipi","Kendine özgü fasiyes ve hidronefroz ile seyredendistal artrogripozis"]}},"xrefs":[{"source":"OMIM","code":"601776","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"615539","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q79.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD28.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011142","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1866294","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8486","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":371183,"name":"Congenital disorder of glycosylation with cardiac malformation as a major feature","classifications":[147,148,156]},{"orpha":371207,"name":"Congenital disorder of glycosylation with nephropathy as a major feature","classifications":[156,188]},{"orpha":371047,"name":"Congenital disorder of glycosylation with neurological involvement","classifications":[156,181]},{"orpha":371200,"name":"Congenital disorder of glycosylation with skin involvement","classifications":[156,187]},{"orpha":309450,"name":"Disorder of O-xylosylglycan synthesis","classifications":[150,156]},{"orpha":97120,"name":"Distal arthrogryposis","classifications":[147,156]},{"orpha":98249,"name":"Ehlers-Danlos syndrome","classifications":[147,156,187,196]}],"children":[],"genes":[{"symbol":"CHST14","name":"carbohydrate sulfotransferase 14","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22581468[PMID]_20533528[PMID]","hgnc":"24464","ensembl":"ENSG00000169105","omim":"608429","loci":["15q15.1"]},{"symbol":"DSE","name":"dermatan sulfate epimerase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23704329[PMID]","hgnc":"21144","ensembl":"ENSG00000111817","omim":"605942","loci":["6q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":34.0,"area":"Worldwide","status":"Validated","source":"26373698[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26373698[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-11-21","source":"26373698[PMID]_26646600[PMID]_30195269[PMID]","terms":[{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000766","label":"Abnormal sternum morphology","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0003319","label":"Abnormality of the cervical spine","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002804","label":"Arthrogryposis multiplex congenita","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001075","label":"Atrophic scars","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000592","label":"Blue sclerae","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002803","label":"Congenital contracture","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0003199","label":"Decreased muscle mass","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006184","label":"Decreased palmar creases","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002194","label":"Delayed gross motor development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001519","label":"Disproportionate tall stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0012534","label":"Dysesthesia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002761","label":"Generalized joint hypermobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000974","label":"Hyperextensible skin","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000239","label":"Large fontanelles","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0005272","label":"Prominent nasolabial fold","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031869","label":"Recurrent joint dislocation","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001238","label":"Slender finger","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001933","label":"Subcutaneous hemorrhage","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001760","label":"Abnormal foot morphology","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000483","label":"Astigmatism","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0010474","label":"Bladder stones","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002947","label":"Cervical kyphosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002253","label":"Colonic diverticula","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0007605","label":"Excessive wrinkling of palmar skin","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001030","label":"Fragile skin","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000308","label":"Microretrognathia","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0007906","label":"Ocular hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001581","label":"Recurrent skin infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001582","label":"Redundant skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000541","label":"Retinal detachment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0430043","label":"Thoracic lordosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001654","label":"Abnormal heart valve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100016","label":"Abnormality of mesentery morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003414","label":"Atlantoaxial dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0410030","label":"Cleft lip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000009","label":"Functional abnormality of the bladder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000787","label":"Nephrolithiasis","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002107","label":"Pneumothorax","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000085","label":"Horseshoe kidney","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004794","label":"Malrotation of small bowel","frequency":"Very rare (<4-1%)","criteria":null}]}}