{"orpha":1275,"name":"Brachydactyly-elbow wrist dysplasia syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Brachydactyly-joint dysplasia syndrome","Liebenberg syndrome"],"definition":"Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibilty to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1275/","orphanet_url":"https://www.orpha.net/en/disease/detail/1275","names":{"fr":{"name":"Syndrome de brachydactylie-dysplasie des coudes et des poignets","synonyms":["Syndrome de Liebenberg","Syndrome de brachydactylie-dysplasie articulaire"],"definition":"Anomalie rare du développement osseux d'origine génétique caractérisée par une dysplasie de tous les composants osseux de l'articulation du coude, une forme anormale des os du carpe, une déviation radiale de l'articulation du poignet et une brachydactylie. Les articulations des coudes sont généralement en légère flexion (pas d'extension active) et l'amplitude des mouvements des articulations du coude, du poignet et des doigts est limitée. Des cas de camptodactylie et de syndactylie ont également été rapportés."},"de":{"name":"Brachydaktylie - Ellenbogen-/Handgelenk-Dysplasie","synonyms":["Brachydaktylie - Gelenkdysplasie","Liebenberg-Syndrom"]},"es":{"name":"Síndrome de braquidactilia-displasia de codos y muñecas","synonyms":["Braquidactilia-displasia articular","Síndrome de Liebenberg"],"definition":"Es un trastorno del desarrollo óseo genético y poco frecuente caracterizado por displasia de todos los componentes óseos de la articulación del codo, huesos carpianos anómalos, desviación radial de la articulación de la muñeca y braquidactilia. Los afectados suelen presentar una ligera flexión en las articulaciones del codo (con imposibilidad de realizar una extensión activa) y, por lo general, se asocia un rango limitado de movimiento de las articulaciones del codo, muñeca y dedos de la mano. También se ha descrito camptodactilia y sindactilia."},"it":{"name":"Sindrome da brachidattilia e displasia del polso","synonyms":["Brachidattilia - displasia delle articolazioni","Sindrome di Liebenberg"],"definition":"La sindrome da brachidattilia e displasia del polso è una malattia genetica rara dello sviluppo dell'osso, caratterizzata da displasia di tutte le componenti ossee dell'articolazione del gomito, anomalie morfologiche delle ossa del carpo, deviazione radiale dell'articolazione del polso e brachidattilia. Di solito i pazienti presentano una lieve flessione dell'articolazione del gomito (che rende impossibile l'estensione attiva), associata ad una limitazione dei movimenti delle articolazioni del gomito, del polso e delle dita. Possono associarsi la camptodattilia e la sindattilia."},"nl":{"name":"Brachydactylie - elleboog-/polsdysplasie-syndroom","synonyms":["Brachydactylie - gewrichtsdysplasie-syndroom","Syndroom van Liebenberg"],"definition":"Brachydactylie - elleboog-/polsdysplasie-syndroom is een zeldzame, genetische botontwikkelingsstoornis die gekarakteriseerd wordt door dysplasie van alle benige componenten van het ellebooggewricht, handwortelbeentjes met een abnormale vorm, radiale deviatie van het polsgewricht en brachydactylie. Patiënten vertonen doorgaans geringe flexie ter hoogte van de ellebooggewrichten (met een onvermogen tot actieve extensie) en meestal associatie met een beperkt bewegingsbereik van de elleboog-, pols- en vingergewrichten. Camptodactylie en syndactylie werden ook reeds gerapporteerd."},"pt":{"name":"Síndrome de braquidactilia-displasia do cotovelo e punho","synonyms":["Síndrome Liebenberg"]},"pl":{"name":"Brachdaktylia - dysplazja łokciowo-nadgarstkowa","synonyms":["Brachydaktylia - dysplazja stawów","Zespół Liebenberga"],"definition":"*Brachydaktylia - dysplazja łokciowo-nadgarstkowa jest rzadkim, genetycznie uwarunkowanym zaburzeniem rozwoju kości, który charakteryzuje się dysplazją wszystkich elementów kostnych stawu łokciowego, nieprawidłowo ukształtowanymi kośćmi nadgarstka, odchyleniem w stronę kości promieniowej stawu nadgarstkowego i brachydaktylią (skróceniem palców). Łokcie pacjentów ułożone są zwykle w łagodnej pozycji zgięciowej (brak możliwości czynnego wyprostu), a zakres ruchów w stawie łokciowym, nadgarstku i stawach palców jest ograniczony. Opisywano również występowanie kamptodaktylii (przykurcz palców) i syndaktylii (zrośnięcie palców)."},"cs":{"name":"Syndrom zahrnující brachydaktylii a dysplázii lokte a zápěstí","synonyms":["Syndrom zahrnující brachydaktylii a kloubní dysplázii","Liebenbergův syndrom"]},"uk":{"name":"Синдром брахідактилії - дисплазії ліктьового суглоба","synonyms":["Синдром брахідактилії - дисплазії суглобів","Синдром Лібенберга"],"definition":"Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibilty to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported."},"zh":{"name":"短指畸形-肘腕发育不良综合征","synonyms":["短指畸形-关节发育不良综合征"]},"tr":{"name":"Brakidaktili dirsek bilek displazisi sendromu","synonyms":["Liebenberg sendromu","Brakidaktili eklem displazisi sendromu"]}},"xrefs":[{"source":"OMIM","code":"186550","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q73.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD26.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1284057444"},{"source":"MONDO","code":"0008520","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566090","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1861313","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"966","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":498451,"name":"Dysostosis with brachydactyly without extraskeletal manifestations","classifications":[147,156,199]},{"orpha":93459,"name":"Syndrome with synostosis or other joint formation defect","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"MACROH2A1","name":"macroH2A.1 histone","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30711920[PMID]","hgnc":"4740","ensembl":"ENSG00000113648","omim":"610054","loci":["5q31.1"]},{"symbol":"PITX1","name":"paired like homeodomain 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23022097[PMID]","hgnc":"9004","ensembl":"ENSG00000069011","omim":"602149","loci":["5q31.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"23587911[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23587911[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0009832","label":"Abnormal distal phalanx morphology of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001231","label":"Abnormal fingernail morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031095","label":"Abnormal humerus morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040071","label":"Abnormal morphology of ulna","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006501","label":"Aplasia/Hypoplasia of the radius","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003042","label":"Elbow dislocation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005048","label":"Synostosis of carpal bones","frequency":"Very frequent (99-80%)","criteria":null}]}}