{"orpha":482606,"name":"X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic disease characterized by congenital contractures of the distal interphalangeal joints, progressive stiffness of the shoulders and neck, keloid scarring, increased optic cup-to-disc ratio, and renal stones. Additional reported features include arthritis, osteoporosis, hypoplastic flexion creases, clinodactyly, anxiety, and facial dysmorphism (such as sloping forehead, prominent supraorbital ridges, downslanting palpebral fissures, prominent ears, and high arched palate). Female carriers exhibit a variable, milder phenotype.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-482606/","orphanet_url":"https://www.orpha.net/en/disease/detail/482606","names":{"fr":{"name":"Syndrome lié à l'X de cicatrices chéloïdes-mobilité articulaire réduite-rapport excavation/disque optique accru","definition":"Maladie génétique rare caractérisée par des contractures congénitales des articulations interphalangiennes distales, une raideur progressive des épaules et du cou, des cicatrices chéloïdes, une augmentation du rapport cupule/disque optique et des calculs rénaux. Parmi les autres signes rapportés, citons l'arthrite, l'ostéoporose, un nombre réduit de plis de flexion en raison de l'hypoplasie, la clinodactylie, l'anxiété et la dysmorphie faciale (front plat, crêtes supra-orbitaires proéminentes, fentes palpébrales descendantes, oreilles proéminentes et palais ogival). Les femmes porteuses présentent un phénotype variable et plus léger."},"de":{"name":"X-chromosomale keloide Vernarbung-verminderte Gelenkmobilität-erhöhte Papillenexkavation-Syndrom","definition":"Eine seltene genetische Erkrankung, die durch angeborene Kontrakturen der distalen Interphalangealgelenke, fortschreitende Schulter- und Nackensteifigkeit, Keloidnarben, ein vergrößertes Verhältnis von Augenhöhle zu Augenscheibe und Nierensteine gekennzeichnet ist. Zu den weiteren berichteten Merkmalen gehören Arthritis, Osteoporose, hypoplastische Beugefalten, Klinodaktylie, Angstzustände und Gesichtsdysmorphien (wie z. B. eine fliehende Stirn, hervorstehende supraorbitale Grate, schräg abwärts verlaufende Lidspalten, abstehende Ohren und ein hochgewölbter Gaumen). Weibliche Träger weisen einen variablen, milderen Phänotyp auf."},"es":{"name":"Síndrome ligado al cromosoma X de cicatrización queloide-movilidad articular reducida-aumento de la relación copa/disco óptico","definition":"Es una enfermedad de base genética poco frecuente caracterizada por contracturas congénitas de las articulaciones interfalángicas distales, rigidez progresiva de los hombros y de la región cervical, cicatrización queloide, aumento de la relación copa/disco en el fondo de ojo y cálculos renales. Otras características adicionales descritas incluyen artritis, osteoporosis, pliegues de flexión hipoplásicos, clinodactilia, ansiedad y dismorfia facial (como frente inclinada, crestas supraorbitarias prominentes, fisuras palpebrales descendentes, orejas prominentes y paladar ojival). Las mujeres portadoras exhiben un fenotipo variable y más leve."},"it":{"name":"Sindrome cicatrici cheloidi-riduzione della mobilità articolare-aumento del rapporto coppa-disco ottico, legata all'X","definition":"Si tratta di una malattia genetica rara, caratterizzata da contratture congenite delle articolazioni interfalangee distali, rigidità progressiva delle spalle e del collo, cicatrici cheloidi, aumento del rapporto coppa-disco ottico e calcoli renali. I pazienti possono presentare anche artrite, osteoporosi, pieghe di flessione ipoplastiche, clinodattilia, ansia e dismorfismi facciali (fronte sfuggente, arcate sopraorbitali prominenti, rime palpebrali oblique verso il basso, orecchie prominenti e palato ogivale). Le femmine portatrici presentano un fenotipo variabile e più lieve."},"nl":{"name":"X-gebonden keloïde littekenvorming - verminderde gewrichtsmobiliteit - verhoogde papilexcavatie-syndroom","definition":"Een zeldzame, genetische aandoening, gekarakteriseerd door congenitale contracturen van distale interfalangeale gewrichten, progressieve stijfheid van schouder en nek, vorming van keloïden, verhoogde cup (kern van papil)/disc (gehele papil)-verhouding, en nierstenen. Bijkomende kenmerken die werden gerapporteerd, zijn onder meer artritis, osteoporose, hypoplastische buigplooien, clinodactylie, angst, en faciale dysmorfie (zoals hellend voorhoofd, prominente supraorbitale randen, schuin naar beneden hellende ooglidspleten, prominente oren, en hoog gebogen verhemelte). Vrouwelijke dragers vertonen een variabel, milder fenotype."},"pt":{"name":"Síndrome de cicatrizes quelóides-mobilidade articular reduzida-aumento da relação escavação/disco óptico ligada ao X"},"pl":{"name":"Zespół keloidów bliznowaciejących, ograniczonej ruchomości w stawach i podwyższonego stosunku średnicy zagłębienia do średnicy tarczy nerwu wzrokowego sprzężony z chromosomem X"},"cs":{"name":"Syndrom X-vázaných keloidních jizev, snížené kloubní mobility a zvýšeného poměru jamky a terče"},"uk":{"name":"Х-зчеплений синдром келоїдних рубців-зниження рухливості суглобів-підвищеного співвідношення чашки зорового нерва до диска зорового нерва","definition":"A rare genetic disease characterized by congenital contractures of the distal interphalangeal joints, progressive stiffness of the shoulders and neck, keloid scarring, increased optic cup-to-disc ratio, and renal stones. Additional reported features include arthritis, osteoporosis, hypoplastic flexion creases, clinodactyly, anxiety, and facial dysmorphism (such as sloping forehead, prominent supraorbital ridges, downslanting palpebral fissures, prominent ears, and high arched palate). Female carriers exhibit a variable, milder phenotype."},"zh":{"name":"X连锁-瘢痕疙瘩-关节活动度降低-视杯视盘比增大综合征"},"tr":{"name":"X'e bağlı keloid skarlaşması-azalmış eklem hareketliliği-artmış optik kapak-disk oranı sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q87.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0044617","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5567520","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":79359,"name":"Other epidermal disorder","classifications":[187]},{"orpha":79360,"name":"Other genetic epidermal disease","classifications":[156]},{"orpha":441434,"name":"Syndromic hereditary optic neuropathy","classifications":[156,189]}],"children":[],"genes":[{"symbol":"FLNA","name":"filamin A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26804200[PMID]_26686323[PMID]","hgnc":"3754","ensembl":"ENSG00000196924","omim":"300017","loci":["Xq28"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Adolescent","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":15.0,"area":"Worldwide","status":"Validated","source":"26804200[PMID]_26686323[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26804200[PMID]_26686323[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-01-16","source":"27868399[PMID]_28268051[PMID]_26506222[PMID]","terms":[]}}