{"orpha":1323,"name":"Camptodactyly-joint contractures-facial skeletal defects syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Rozin camptodactyly syndrome"],"definition":"A rare multiple congenital anomalies syndrome characterized by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1323/","orphanet_url":"https://www.orpha.net/en/disease/detail/1323","names":{"fr":{"name":"Syndrome de camptodactylie-contractures articulaires-anomalies osseuses de la face","synonyms":["Syndrome de camptodactylie de Rozin"],"definition":"Le syndrome de camptodactylie-raideur articulaire-anomalies osseuses de la face est caractérisé par l'association d'une camptodactylie, de malformations oculaires multiples (fibrose du muscle oculomoteur interne, myopie sévère, ptosis et exophtalmie), d'une scoliose, de contractures en flexion et d'anomalies faciales (sourcils arqués, asymétrie faciale, forme du crâne anormale, nez proéminent, petite bouche, oreilles dysplasiques basses, et cheveux implantés bas sur la nuque)."},"de":{"name":"Kamptodaktylie-Gelenkkontrakturen-faziale Skelettdefekte-Syndrom","synonyms":["Kamptodaktylie-Syndrom Typ Rozin"],"definition":"Ein seltenes Syndrom mit multiplen angeborenen Anomalien, das durch die Kombination von Kamptodaktylie, multiplen Augendefekten (Fibrose des medialen Rektusmuskels, schwere Myopie, Ptosis und Exophthalmus), Skoliose, Beugekontrakturen und Gesichtsanomalien (bogige Augenbrauen, Gesichtsasymmetrie mit abnormaler Schädelform, hervorstehende Nase, kleiner Mund, tiefsitzende und dysplastische Ohren und ein niedriger Nackenhaaransatz) gekennzeichnet ist."},"es":{"name":"Síndrome de camptodactilia-contracturas articulares-anomalías faciales esqueléticas","synonyms":["Síndrome de Rozin-camptodactilia"],"definition":"Es un síndrome de anomalías congénitas múltiples poco frecuente caracterizado por la asociación de camptodactilia, defectos oculares múltiples (fibrosis del músculo recto medial, miopía severa, ptosis y exoftalmos), escoliosis, contracturas en flexión y anomalías faciales (cejas arqueadas, asimetría facial con una forma craneal anómala, nariz prominente, boca pequeña, orejas de implantación baja y displásicas, y una línea capilar nucal baja)."},"it":{"name":"Sindrome da camptodattilia-contratture articolari-anomalie facciali e scheletriche","synonyms":["Sindrome da camptodattilia di Rozin"]},"nl":{"name":"Camptodactylie - gewrichtscontracturen - defecten van faciaal skelet-syndroom","synonyms":["Camptodactylie-syndroom van Rozin"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën, gekenmerkt door de associatie van camptodactylie, multipele oogdefecten (fibrose van musculus rectus medialis (mediale rechte oogspier), ernstige myopie, ptosis, en exoftalmie), scoliose, flexiecontracturen, en faciale anomalieën (gebogen wenkbrauwen, faciale asymmetrie met abnormale vorm van schedel, prominente neus, kleine mond, laagstaande en dysplastische oren, en lage achterste haarlijn)."},"pt":{"name":"Síndrome de camptodactilia-contraturas articulares-defeitos esqueléticos faciais","synonyms":["Síndrome de camptodactilia Rozin"]},"pl":{"name":"Zespół kamptodaktylii-przykurczów stawowych-wad części kostnych twarzy","synonyms":["Zespół Rozina, Hertza i Goodmana","Zespół Rozina - kamptodaktylia"]},"cs":{"name":"Syndrom zahrnující kamptodaktylii, kloubní kontraktury a defekty skeletu obličeje","synonyms":["Rozinové syndrom kamptodaktylie","Rozinové-Hertzové-Goodmanův syndrom","Rozin-Hertz-Goodmanův syndrom"]},"uk":{"name":"Синдром камптодактилії - контрактури суглобів - дефектів лицьового скелета","synonyms":["Синдром камподактилії Розіна"],"definition":"A rare multiple congenital anomalies syndrome characterized by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline)."},"zh":{"name":"指屈曲-关节挛缩-面部骨骼缺损综合征","synonyms":["Rozin指弯曲畸形综合征"]},"tr":{"name":"Kamptodaktili eklem kontraktürleri-yüz iskelet defektleri sendromu","synonyms":["Rozin-Hertz-Goodman sendromu","Rozin-kamptodaktili sendromu"]}},"xrefs":[{"source":"OMIM","code":"602612","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011262","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535876","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931051","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"216","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":364568,"name":"Dysostosis with limb anomaly as a major feature","classifications":[147,199]},{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":98578,"name":"Rare disorder with ptosis","classifications":[147,156,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"16688750[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_16688750[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002683","label":"Abnormality of the calvaria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003272","label":"Abnormality of the hip bone","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100555","label":"Asymmetric growth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004422","label":"Biparietal narrowing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002162","label":"Low posterior hairline","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000189","label":"Narrow palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005048","label":"Synostosis of carpal bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003422","label":"Vertebral segmentation defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null}]}}