{"orpha":955,"name":"Hajdu-Cheney syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Acroosteolysis dominant type","Acroosteolysis with osteoporosis and changes in skull and mandible","Arthrodentoosteodysplasia","Cheney syndrome"],"definition":"A rare autosomal dominant skeletal disorder, characterized by progressive bone resorption in the distal phalanges (acro-osteolysis), progressive osteoporosis, distinct craniofacial changes, dental anomalies, and occasional association with renal abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-955/","orphanet_url":"https://www.orpha.net/en/disease/detail/955","names":{"fr":{"name":"Syndrome de Hajdu-Cheney","synonyms":["Acro-ostéolyse autosomique dominante","Acrostéolyse autosomique dominante","Arthro-dento-ostéodysplasie","Dysplasie acro-dento-osseuse","Syndrome de Cheney"],"definition":"Anomalie squelettique autosomique dominante rare, caractérisée par une résorption osseuse progressive des phalanges distales (acro-ostéolyse), une ostéoporose progressive, une dysmorphie cranio-faciale distincte, des anomalies dentaires, parfois en association avec des pathologies rénales."},"de":{"name":"Hajdu-Cheney-Syndrom","synonyms":["Akro-dento-osteodysplasie","Akroosteolyse mit Osteoporose und Veränderungen der Knochen in Schädel und Unterkiefer","Akroosteolyse, autosomal-dominante","Cheney-Syndrom"],"definition":"Eine seltene autosomal-dominante Skeletterkrankung, die durch fortschreitende Knochenresorption in den distalen Phalangen (Akro-Osteolyse), fortschreitende Osteoporose, ausgeprägte kraniofaziale Veränderungen und Zahnanomalien gekennzeichnet ist und gelegentlich mit Nierenanomalien einhergeht."},"es":{"name":"Síndrome de Hajdu-Cheney","synonyms":["Acroosteólisis con osteoporosis y cambios en cráneo y mandíbula","Acroosteólisis tipo dominante","Artrodentoosteodisplasia","Sindrome de Cheney"],"definition":"Es un trastorno esquelético autosómico dominante poco frecuente caracterizado por resorción ósea progresiva de las falanges distales (acroosteólisis), osteoporosis progresiva, cambios craneofaciales distintivos, anomalías dentales y asociación ocasional con anomalías renales."},"it":{"name":"Sindrome di Hajdu-Cheney","synonyms":["Acro-osteolisi con osteoporosi e alterazioni del cranio e della mandibola","Acro-osteolisi, tipo dominante","Displasia artro-dento-ossea","Sindrome di Cheney"],"definition":"Si tratta di una malattia scheletrica rara, a trasmissione autosomica dominante, caratterizzata da riassorbimento osseo progressivo a livello delle falangi distali (acro-osteolisi), osteoporosi progressiva, alterazioni craniofacciali, anomalie dei denti e, occasionalmente, anomalie renali."},"nl":{"name":"Syndroom van Hajdu-Cheney","synonyms":["Acro-osteolyse met osteoporose en veranderingen in schedel en onderkaak","Acro-osteolyse, dominant type","Artrodento-osteodysplasie","Syndroom van Cheney"],"definition":"Een zeldzame autosomaal dominante aandoening van skelet, gekenmerkt door progressieve botresorptie in distale falangen (acro-osteolyse), progressieve osteoporose, typische craniofaciale veranderingen, dentale anomalieën, en occasioneel associatie met nierafwijkingen."},"pt":{"name":"Síndrome Hajdu-Cheney","synonyms":["Acrosteólise tipo dominante","Artro-dento-osteodisplasia","Síndrome Cheney"],"definition":"Doença esquelética autossómica dominante rara, caracterizada por reabsorção óssea progressiva nas falanges distais (acro-osteólise), osteoporose progressiva, alterações craniofaciais distintas, anomalias dentárias e ocasionalmente surgem associadas anomalias renais."},"pl":{"name":"Akroosteoliza typu dominującego","synonyms":["Arthro-dento-ostéodysplasie","Akroosteoliza z osteopetrozą i zmianami w czaszce i żuchwie","Dysplazja kończynowo-zębowo-kostna","Dysplazja stawowo-zębowo-kostna","Zespół Cheney'a","Zespół Hajdu i Cheney'a"]},"cs":{"name":"Akroosteolýza, dominantní typ","synonyms":["Akrodentoosteodysplázie","Artrodentoosteodysplázie","Cheneyho syndrom","Akroosteolýza s osteoporózou a změnami lebky a dolní čelisti","Hajduův-Cheneyho syndrom","Hajdu-Cheneyho syndrom"]},"uk":{"name":"Синдром Хайду-Чейні","synonyms":["Домінуючий тип акроостеолізу","Акроостеоліз з остеопорозом і змінами в черепі та нижній щелепі","Артродентоостеодисплазія","Синдром Чейні"],"definition":"A rare autosomal dominant skeletal disorder, characterized by progressive bone resorption in the distal phalanges (acro-osteolysis), progressive osteoporosis, distinct craniofacial changes, dental anomalies, and occasional association with renal abnormalities."},"zh":{"name":"肢端骨质溶解外显型","synonyms":["肢端骨溶解症伴骨质疏松与颅骨、下颌骨改变"]},"tr":{"name":"Akroosteoliz dominant tip","synonyms":["Cheney sendromu","Hajdu-Cheney sendromu","Akrodentoosteodisplazi","Artrodentoosteodisplazi","Osteoporoz ve kafatasında ve mandibulada değişiklikler ile seyreden akroosteoliz"]}},"xrefs":[{"source":"OMIM","code":"102400","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"102500","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"M89.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"FB86.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"488822470"},{"source":"MONDO","code":"0007057","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D031845","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0917715","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"508","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":2853,"name":"Serpentine fibula-polycystic kidneys syndrome","status":"inactive"}],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93449,"name":"Primary osteolysis","classifications":[147,156,199]},{"orpha":486955,"name":"Rare pediatric rheumatologic disease","classifications":[231]},{"orpha":182231,"name":"Rare rheumatologic disease","classifications":[196]},{"orpha":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,156,188,233]}],"children":[],"genes":[{"symbol":"NOTCH2","name":"notch receptor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"21378985[PMID]","hgnc":"7882","ensembl":"ENSG00000134250","omim":"600275","loci":["1p12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"25491639[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25491639[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000929","label":"Abnormal skull morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004331","label":"Decreased skull ossification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002797","label":"Osteolysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011305","label":"Partial absence of toe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000704","label":"Periodontitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001831","label":"Short toe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001231","label":"Abnormal fingernail morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000277","label":"Abnormality of the mandible","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002688","label":"Absent frontal sinuses","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004586","label":"Biconcave vertebral bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002653","label":"Bone pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002308","label":"Chiari malformation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002230","label":"Generalized hirsutism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008424","label":"Hypoplastic 5th lumbar vertebrae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010807","label":"Open bite","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002691","label":"Platybasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000269","label":"Prominent occiput","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002757","label":"Recurrent fractures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000445","label":"Wide nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002645","label":"Wormian bones","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001608","label":"Abnormality of the voice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001650","label":"Aortic valve stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006487","label":"Bowing of the long bones","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002208","label":"Coarse hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100790","label":"Hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010669","label":"Hypoplasia of the zygomatic bone","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002566","label":"Intestinal malrotation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000294","label":"Low anterior hairline","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001718","label":"Mitral stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005562","label":"Multiple renal cysts","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002999","label":"Patellar dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100670","label":"Rough bone trabeculation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003396","label":"Syringomyelia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001072","label":"Thickened skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Occasional (29-5%)","criteria":null}]}}