{"orpha":1662,"name":"Restrictive dermopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Lethal hyperkeratosis-contracture syndrome","Lethal restrictive dermopathy","Lethal tight skin-contracture syndrome"],"definition":"A congenital genodermatosis with skin/mucosae involvement, characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) and pulmonary hypoplasia without neurological abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1662/","orphanet_url":"https://www.orpha.net/en/disease/detail/1662","names":{"fr":{"name":"Dermopathie restrictive","synonyms":["Dermopathie restrictive létale"],"definition":"Génodermatose congénitale avec atteinte de la peau et des muqueuses caractérisée par une peau très tendue et fine avec des érosions et une desquamation, associée à une dysmorphie faciale caractéristique, une arthrogrypose multiple, une séquence d'akinésie/hypokinésie foetale (FADS pour fetal akinesia or hypokinesia deformation sequence) et une hypoplasie pulmonaire sans anomalies neurologiques."},"de":{"name":"Restriktive Dermopathie","synonyms":["Dermopathie, letale restriktive","Letale Hyperkeratose-Kontrakturen-Syndrom"],"definition":"Eine kongenitale Genodermatose mit Haut-/Schleimhautbeteiligung, die durch sehr straffe und dünne Haut mit Erosionen und Schuppung gekennzeichnet ist und mit einer typischen Gesichtsdysmorphie, Arthrogryposis multiplex, fetaler Akinesie oder Hypokinesie-Deformationssequenz (FADS) und pulmonaler Hypoplasie ohne neurologische Anomalien einhergeht."},"es":{"name":"Dermopatía restrictiva","synonyms":["Dermopatía restrictiva letal","Síndrome de contracturas-piel tensa letal","Síndrome de hiperqueratosis-contracturas letal"],"definition":"Es una genodermatosis congénita con afectación de piel/mucosas, caracterizada por una piel muy tensa y delgada con erosiones y descamación, asociada a dismorfia facial típica, artrogriposis múltiple, secuencia de acinesia/hipocinesia fetal (FADS, por sus siglas en inglés) e hipoplasia pulmonar sin anomalías neurológicas."},"it":{"name":"Dermopatia restrittiva","synonyms":["Dermopatia restrittiva letale","Sindrome contratture-aderenze cutanee","Sindrome contratture-ipercheratosi"],"definition":"È una genodermatosi congenita che colpisce la cute e le mucose; è caratterizzata da cute molto ''tesa'' e sottile, erosa e desquamata, associata a dismorfismi facciali caratteristici, artrogriposi multipla, sequenza dell'acinesia o ipocinesia fetale (FADS) e ipoplasia polmonare, in assenza di anomalie neurologiche."},"nl":{"name":"Restrictieve dermopathie","synonyms":["Letaal hyperkeratose - contracturen-syndroom","Letaal strakke huid - contracturen-syndroom","Letale restrictieve dermatopathie"],"definition":"Een congenitale genodermatose met betrokkenheid van huid/slijmvliezen, gekarakteriseerd door zeer strakke en dunne huid met erosies en afschilfering, geassocieerd met een typische faciale dysmorfie, arthrogryposis multiplex, foetale akinesie of hypokinesie deformatie sequentie (FADS), en pulmonale hypoplasie zonder neurologische anomalieën."},"pt":{"name":"Dermopatia restritiva","synonyms":["Dermopatia restritiva letal"]},"pl":{"name":"Dermopatia restrykcyjna","synonyms":["Tight skin contracture syndrome","Letalna dermopatia restrykcyjna","Zespół hiperkeratozy i przykurczy"]},"cs":{"name":"Restriktivní dermopatie","synonyms":["Syndrom zahrnující hyperkeratózu a kontraktury","Letální restriktivní dermopatie","Syndrom s kontrakturami a napjatou kůží"]},"uk":{"name":"Рестриктивна дермопатія","synonyms":["Летальний гіперкератозно-контрактурний синдром","Летальна рестриктивна дермопатія","Смертельний синдром тугого стиснення шкіри"],"definition":"A congenital genodermatosis with skin/mucosae involvement, characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) and pulmonary hypoplasia without neurological abnormalities."},"zh":{"name":"限制性皮肤病","synonyms":["致死性皮肤角化过度-挛缩综合征"]},"tr":{"name":"Kısıtlayıcı dermopati","synonyms":["Letal kısıtlayıcı dermopati","Letal sıkı cilt kontraktür sendromu","Letal hiperkeratoz kontraktür sendromu"]}},"xrefs":[{"source":"OMIM","code":"275210","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"619793","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EE6Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"713433700"},{"source":"MONDO","code":"0031213","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"31213","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536920","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0406585","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1516","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":300766,"name":"Laminopathy with premature aging","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":139027,"name":"Rare developmental defect with skin/mucosae involvement","classifications":[147,156]}],"children":[],"genes":[{"symbol":"LMNA","name":"lamin A/C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18470519[PMID]_19020898[PMID]","hgnc":"6636","ensembl":"ENSG00000160789","omim":"150330","loci":["1q22"]},{"symbol":"ZMPSTE24","name":"zinc metallopeptidase STE24","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18470519[PMID]_19020898[PMID]","hgnc":"12877","ensembl":"ENSG00000084073","omim":"606480","loci":["1p34.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-09-04","source":"24169522[PMID]_21127399[PMID]_15843403[PMID]_15317753[PMID]_15897383[PMID]_3840649[PMID]_8291564[PMID]","terms":[{"hpo":"HP:0030053","label":"Stiff skin","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0025354","label":"Abnormal cellular phenotype","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002597","label":"Abnormality of the vasculature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009924","label":"Aplasia/Hypoplasia involving the nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006710","label":"Aplasia/Hypoplasia of the clavicles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007592","label":"Aplasia/Hypoplastia of the eccrine sweat glands","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002804","label":"Arthrogryposis multiplex congenita","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001558","label":"Decreased fetal movement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004331","label":"Decreased skull ossification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004334","label":"Dermal atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010648","label":"Dermal translucency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000621","label":"Entropion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005595","label":"Generalized hyperkeratosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005253","label":"Increased anterioposterior diameter of thorax","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002828","label":"Multiple joint contractures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005267","label":"Premature delivery because of cervical insufficiency or membrane fragility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040189","label":"Scaling skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012745","label":"Short palpebral fissure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001196","label":"Short umbilical cord","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200041","label":"Skin erosion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006266","label":"Small placenta","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0045075","label":"Sparse eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200102","label":"Sparse or absent eyelashes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010219","label":"Structural foot deformity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000176","label":"Submucous cleft hard palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012478","label":"Temporomandibular joint ankylosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006645","label":"Thin clavicles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000883","label":"Thin ribs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004492","label":"Widely patent fontanelles and sutures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004970","label":"Ascending tubular aorta aneurysm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000453","label":"Choanal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008244","label":"Congenital adrenal hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001651","label":"Dextrocardia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006267","label":"Large placenta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004388","label":"Microcolon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000695","label":"Natal tooth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001799","label":"Short nail","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005659","label":"Thoracic kyphoscoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001669","label":"Transposition of the great arteries","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000073","label":"Ureteral duplication","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000465","label":"Webbed neck","frequency":"Occasional (29-5%)","criteria":null}]}}