{"Name":"Radioulnar synostosis","DiseaseID__c":"GARD:0010876","id":10876,"encodedName":"radioulnar-synostosis","IsDeleted":false,"Disease_Name_Full__c":"Radioulnar synostosis","Xref_IDs__c":"33313004; C0158761; C562408; DOID:9827; HP:0002974; MEDGEN:57861; MONDO:0017985; ORPHA:3269","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0017985","Disease_Description__c":"Congenital radioulnar synostosis is a rare bone disorder that may be isolated or associated with other disorders and that is characterized by failure of segmentation of the radius and ulna during embryological development, causing limited rotational movements of the forearm, which may lead to difficulties with some activities of daily living.","GARD_Name__c":"Radioulnar synostosis","GARD_Synonym__c":"congenital radioulnar synostosis; fused forearm bones; radioulnar fusion; radioulnar synostosis (disease)","Curated_Disease_Description_Source__c":"GARD:0010876","Curated_Disease_Description__c":"Congenital radioulnar synostosis is a rare condition in which there is an abnormal connection (synostosis) of the radius and ulna (bones in the forearm) at birth. The condition is present in both arms (bilateral) in approximately 60% of cases. Signs and symptoms depend on the severity of the abnormality and whether it is bilateral; people with the condition often have limited rotational movement of the forearm. Pain is usually not present until the teenage years. There are 2 types of radioulnar synostosis: type 1 and type 2. In type 1, the fusion involves 2-6 cm of the area between the radius and ulna bones which is closer to the elbow and the knobby end of the radius that meets the elbow is absent (radial head). In type 2, the fusion is farther from the elbow and there is dislocation of the radial head. Both types result in a limitation of inward roll (pronation) and outward roll (supination) of the forearm, and in type 2 there is also a restriction of extension at the elbow. Congenital radioulnar synostosis is due to abnormal fetal development of the forearm bones, but the underlying cause is not always known. It is sometimes a feature of certain chromosome abnormalities or genetic syndromes. Some cases appear to be inherited in an autosomal dominant manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:3269","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017985","ORPHANET_ID__c":"ORPHA:3269","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Sinostosis radiocubital aislada","Spanish_Description_Source__c":"ORPHA:3269","Spanish_Description__c":"Es un trastorno óseo poco frecuente que se presenta de forma aislada o asociado a otros trastornos. Está caracterizado por un fallo en la segmentación del radio y del cúbito durante el desarrollo embrionario, limitando los movimientos de rotación del antebrazo que puede acarrear dificultades en algunas actividades de la vida diaria.","Spanish_Disease_Name__c":"sinostosis radiocubital aislada","Spanish_GARD_Synonym__c":"fusión radiocubital congénita aislada","Category_Linearization__c":"ORPHA:93890","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Congenital radioulnar synostosis is a rare condition in which there is an abnormal connection (synostosis) of the radius and ulna (bones in the forearm) at birth. The condition is present in both arms (bilateral) in approximately 60% of cases. Signs and symptoms depend on the severity of the abnormality and whether it is bilateral; people with the condition often have limited rotational movement of the forearm. Pain is usually not present until the teenage years. There are 2 types of radioulnar synostosis: type 1 and type 2. In type 1, the fusion involves 2-6 cm of the area between the radius and ulna bones which is closer to the elbow and the knobby end of the radius that meets the elbow is absent (radial head). In type 2, the fusion is farther from the elbow and there is dislocation of the radial head. Both types result in a limitation of inward roll (pronation) and outward roll (supination) of the forearm, and in type 2 there is also a restriction of extension at the elbow. Congenital radioulnar synostosis is due to abnormal fetal development of the forearm bones, but the underlying cause is not always known. It is sometimes a feature of certain chromosome abnormalities or genetic syndromes. Some cases appear to be inherited in an autosomal dominant manner.","Curated_Disease_Description_Source__c":"GARD:0010876","GARD_Synonym__c":"congenital radioulnar synostosis; fused forearm bones; radioulnar fusion; radioulnar synostosis (disease)","Name":"Radioulnar synostosis","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"RUS in Focus","Website__c":"https://radioulnarsynostosis.com"},{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"Birth Defect Research for Children","Website__c":"https://www.birthdefects.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Congenital limb malformation","Tag_Category__c":"Account","curated_tag_name":"Limb anomalies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:3269"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:3269"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=57861","Source__c":"C0158761","Xref__c":"MEDGEN:57861"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0158761","Source__c":"C0158761","Xref__c":"C0158761"},{"URL__c":"https://www.orpha.net/en/disease/detail/3269","Source__c":"C0158761; MONDO:0017985","Xref__c":"ORPHA:3269"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=33313004","Source__c":"C0158761; MONDO:0017985","Xref__c":"33313004"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A9827","Source__c":"MONDO:0017985","Xref__c":"DOID:9827"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C562408","Source__c":"MONDO:0017985","Xref__c":"C562408"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0002974","Source__c":"C0158761","Xref__c":"HP:0002974"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017985","Source__c":"GARD:0010876","Xref__c":"MONDO:0017985"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3269","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the shoulder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030834","HPO_Synonym__c":"Shoulder pain","HPO_Name__c":"Shoulder pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3269","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as \\\"bony\\\" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as \\\"symphalangism\\\".","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001159","HPO_Synonym__c":"Webbed fingers or toes","HPO_Name__c":"Syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3269","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A congenital anomaly characterized by the presence of supernumerary fingers or toes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010442","HPO_Synonym__c":"More than five fingers or toes on hands or feet","HPO_Name__c":"Polydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3269","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the ulna, a bone of the forearm the extends from the elbow to the little finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040071","HPO_Name__c":"Abnormal morphology of ulna","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3269","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal osseous union (fusion) between the radius and the ulna.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002974","HPO_Synonym__c":"Fused forearm bones","HPO_Name__c":"Radioulnar synostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3269","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002996","HPO_Synonym__c":"Decreased elbow mobility; Limited elbow mobility; Limited elbow movement; Restricted elbow motion","HPO_Name__c":"Limited elbow movement","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3269","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001457","HPO_Name__c":"Abnormality of the musculature of the upper arm","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3269","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001374","HPO_Synonym__c":"Congenital dislocation of the hip; Congenital dislocation of the hips; Congenital hip anomaly; Congenital hip dislocations; Dislocated hip since birth","HPO_Name__c":"Congenital hip dislocation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3269","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the radius.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002818","HPO_Synonym__c":"Abnormality of the radius","HPO_Name__c":"Abnormal morphology of the radius","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3269","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001762","HPO_Synonym__c":"Club feet; Club foot; Clubbing of feet; Clubfeet; Clubfoot; Equinovarus; Foot, talipes equinovarus; Pes equinovarus; Pes equinus","HPO_Name__c":"Talipes equinovarus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3269","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the wrist.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030836","HPO_Synonym__c":"Wrist pain","HPO_Name__c":"Wrist pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3269","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A dislocation of the head of the radius from its socket in the elbow joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003083","HPO_Synonym__c":"Congenital radial head dislocation; Dislocated radius; Dislocation of radial head; Dislocation of the radial head; Radial dislocation; Radial head dislocation; Radial head dislocation/subluxation","HPO_Name__c":"Dislocated radial head","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3269","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A limitation of the ability to place the forearm in a position such that the palm faces anteriorly (supination) and to place the forearm in a position such that the palm faces posteriorly (pronation).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006394","HPO_Synonym__c":"Limited pronation/supination of forearm","HPO_Name__c":"Limited pronation/supination of forearm","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["congenital radioulnar synostosis"," fused forearm bones"," radioulnar fusion"," radioulnar synostosis (disease)"],"spanishId":13324,"spanishName":"sinostosis-radiocubital-congenita"}