{"orpha":56304,"name":"Atelosteogenesis type II","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["AO2","AOII","Atelosteogenesis type 2","De la Chapelle dysplasia","Neonatal osseous dysplasia type 1"],"definition":"A rare, lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-56304/","orphanet_url":"https://www.orpha.net/en/disease/detail/56304","names":{"fr":{"name":"Atélostéogenèse type II","synonyms":["AO2","AOII","Atélostéogenèse type 2","Chondrodysplasie létale type de la Chapelle","Dysplasie osseuse néonatale type 1"],"definition":"L'atélostéogenèse type II est une dysplasie osseuse périnatale létale caractérisée par un raccourcissement des membres, un crâne de taille normale, une fente palatine, des pouces de l'auto-stoppeur, une dysmorphie faciale spécifique et des caractéristiques squelettiques radiographiques. Elle est causée par des mutations du gène du transporteur du sulfate de la dysplasie diastrophique."},"de":{"name":"Atelosteogenesis Typ II","synonyms":["AO2","AOII","Atelosteogenesis Typ 2","Dysplasie Typ De-la-Chapelle","Dysplasie, neonatale ossäre, Typ 1"],"definition":"Eine perinatale letale Knochendysplasie, charakterisiert durch Verkürzung der Gliedmaßen, normal großen Schädel mit Gaumenspalte, Tramperdaumen, ausgeprägte Gesichtsdysmorphien und radiologische Skelettmerkmale. Ursache sind Mutationen im <i>SLC26A2</i>-Gen, das für den Diastrophische-Dysplasie-Sulfattransporter kodiert."},"es":{"name":"Atelosteogénesis tipo II","synonyms":["Displasia de la Chapelle","Displasia ósea neonatal tipo 1","AO2","AOII","Atelosteogénesis tipo 2"],"definition":"Es una displasia ósea perinatal letal poco frecuente, caracterizada por acortamiento de las extremidades, cráneo de tamaño normal con paladar hendido, pulgares en aducción, dismorfia facial distintiva y rasgos esqueléticos distintivos en la radiografía. Está causada por mutaciones en el gen del transportador de sulfato de la displasia diastrófica."},"it":{"name":"Atelosteogenesi 2","synonyms":["Displasia di De la Chapelle","Displasia ossea neonatale 1"]},"nl":{"name":"Atelosteogenese type II","synonyms":["AO2","AOII","Atelosteogenese type 2","Dysplasie, De la Chapelle-type","Neonatale ossale dysplasie type 1"],"definition":"Een zeldzame, perinataal letale botdysplasie, gekarakteriseerd door verkorting van ledematen, schedel met normale omvang en gespleten verhemelte, liftersduimen, kenmerkende faciale dysmorfie en radiografische kenmerken van skelet, veroorzaakt door mutaties in het gen voor diastrofische dysplasie sulfaattransporter."},"pt":{"name":"Atelosteogénese II","synonyms":["Displasia de la Chapelle","Displasia óssea neonatal 1"]},"pl":{"name":"Atelosteogeneza typu II","synonyms":["AO2","AOII","Atelosteogeneza typu 2","Dysplazja De la Chapelle","Noworodkowa dysplazja kości typu 1"]},"cs":{"name":"Atelosteogeneze, typ II","synonyms":["Atelosteogeneze, typ 2","De la Chapellova dysplázie","Neonatální oseální dysplázie, typ 1"]},"uk":{"name":"Ателостеогенез, тип II","synonyms":["AO2","AOII","Ателостеогенез типу 2","Дисплазія де ла Шапель","Неонатальна кісткова дисплазія типу 1"],"definition":"A rare, lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene."},"zh":{"name":"成骨不全II型","synonyms":["新生儿骨发育不良1型"]},"tr":{"name":"Atelosteogenez tip II","synonyms":["AO2","AOII","Atelosteogenez tip 2","De la Chapelle displazisi","Yenidoğan kemik displazisi tip 1"]}},"xrefs":[{"source":"OMIM","code":"256050","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.03","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"248590292"},{"source":"MONDO","code":"0009727","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535395","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1850554","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8329","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":2640,"name":"Lethal short-limb dwarfism, McAlister-Crane type","status":"inactive"}],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":93438,"name":"Mesomelic and rhizo-mesomelic dysplasia","classifications":[147,156,199]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":138055,"name":"Pierre Robin syndrome associated with bone disease","classifications":[147,156,200,209]},{"orpha":93423,"name":"Sulfation-related bone disorder","classifications":[156]}],"children":[],"genes":[{"symbol":"SLC26A2","name":"solute carrier family 26 member 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301493[PMID]","hgnc":"10994","ensembl":"ENSG00000155850","omim":"606718","loci":["5q32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":25.0,"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":"2019-03-26","source":"21077202[PMID]_20301493[PMID]","terms":[{"hpo":"HP:0009826","label":"Limb undergrowth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001591","label":"Bell-shaped thorax","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001776","label":"Bilateral talipes equinovarus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001230","label":"Broad metacarpals","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006009","label":"Broad phalanx","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012385","label":"Camptodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006375","label":"Dumbbell-shaped femur","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008110","label":"Equinovarus deformity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012427","label":"Excessive femoral anteversion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001234","label":"Hitchhiker thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008752","label":"Laryngeal cartilage malformation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001602","label":"Laryngeal stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001840","label":"Metatarsus adductus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008905","label":"Rhizomelia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004991","label":"Rhizomelic arm shortening","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001852","label":"Sandal gap","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003097","label":"Short femur","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006385","label":"Short lower limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010049","label":"Short metacarpal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009803","label":"Short phalanx of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000773","label":"Short ribs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005257","label":"Thoracic hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003423","label":"Thoracolumbar kyphoscoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100694","label":"Tibial torsion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002786","label":"Tracheobronchomalacia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001193","label":"Ulnar deviation of the hand or of fingers of the hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009824","label":"Upper limb undergrowth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100337","label":"Bilateral cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002947","label":"Cervical kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002987","label":"Elbow flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004664","label":"Facial midline hemangioma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008434","label":"Hypoplastic cervical vertebrae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001357","label":"Plagiocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001538","label":"Protuberant abdomen","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012810","label":"Wide nasal base","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003042","label":"Elbow dislocation","frequency":"Very rare (<4-1%)","criteria":null}]}}