{"Name":"OSLAM syndrome","DiseaseID__c":"GARD:0004129","id":4129,"encodedName":"oslam-syndrome","IsDeleted":false,"Disease_Name_Full__c":"OSLAM syndrome","Xref_IDs__c":"733064004; C1833792; C537138; MEDGEN:331588; MONDO:0008139; OMIM:165660; ORPHA:2760","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","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":1,"Description_Source__c":"MONDO:0008139","Disease_Description__c":"A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977.","GARD_Name__c":"OSLAM syndrome","GARD_Synonym__c":"oslam (osteosarcoma, limb anomalies, erythroid macrocytosis) syndrome; osteosarcoma-limb anomalies-erythroid macrocytosis syndrome; osteosarcoma, limb anomalies, and erythroid macrocytosis with megaloblastic marrow; osteosarcoma, limb anomalies, and macrocytosis; osteosarcoma, limb anomalies, erythroid macrocytosis syndrome","Curated_Disease_Description_Source__c":"MONDO:0008139","Curated_Disease_Description__c":"A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:2760","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008139","ORPHANET_ID__c":"ORPHA:2760","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome oslam","Spanish_Description_Source__c":"ORPHA:2760","Spanish_Description__c":"Es una enfermedad genética poco frecuente que se caracteriza por la asociación de osteosarcoma con anomalías de las extremidades (como sinostosis radioulnar bilateral y clinodactilia, así como otras anomalías de las manos y los pies) y macrocitosis eritroide sin anemia. No ha habido más descripciones en la literatura desde 1977.","Spanish_Disease_Name__c":"síndrome oslam","Spanish_GARD_Synonym__c":"osteosarcoma-anomalías de las extremidades-macrocitosis eritroide","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":"A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977.","Curated_Disease_Description_Source__c":"MONDO:0008139","GARD_Synonym__c":"oslam (osteosarcoma, limb anomalies, erythroid macrocytosis) syndrome; osteosarcoma-limb anomalies-erythroid macrocytosis syndrome; osteosarcoma, limb anomalies, and erythroid macrocytosis with megaloblastic marrow; osteosarcoma, limb anomalies, and macrocytosis; osteosarcoma, limb anomalies, erythroid macrocytosis syndrome","Name":"OSLAM syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"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":"Neonatal","Provided_By__c":"ORPHA:2760"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1833792","Source__c":"C1833792","Xref__c":"C1833792"},{"URL__c":"https://www.orpha.net/en/disease/detail/2760","Source__c":"C1833792; MONDO:0008139; ORPHA:2760","Xref__c":"ORPHA:2760"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=331588","Source__c":"C1833792","Xref__c":"MEDGEN:331588"},{"URL__c":"https://www.omim.org/entry/165660","Source__c":"C1833792; MONDO:0008139; ORPHA:2760","Xref__c":"OMIM:165660"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537138","Source__c":"MONDO:0008139","Xref__c":"C537138"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=733064004","Source__c":"C1833792; MONDO:0008139","Xref__c":"733064004"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008139","Source__c":"GARD:0004129","Xref__c":"MONDO:0008139"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2760","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002669","HPO_Synonym__c":"Bone cell cancer; Osteogenic sarcoma","HPO_Name__c":"Osteosarcoma","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2760","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A neutrophil abnormality.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001874","HPO_Synonym__c":"Abnormality of neutrophil; Abnormality of neutrophils; Abnormality of polymorphonuclear neutrophils","HPO_Name__c":"Abnormality of neutrophils","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2760","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000670","HPO_Synonym__c":"Caries; Cariosity of teeth; Dental caries; Dental cavities; Early dental caries; Frequent caries; Tooth cavities; Tooth decay","HPO_Name__c":"Carious teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2760","HPO_Frequency__c":"Occasional (5-29%)","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:2760","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Larger than normal size of erythrocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005518","HPO_Synonym__c":"Erythrocyte macrocytosis; Increased MCV","HPO_Name__c":"Increased mean corpuscular volume","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2760","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004209","HPO_Synonym__c":"Bilateral fifth digit clinodactyly; Bilateral fifth finger clinodactyly; Clinodactyly of fifth digit; Clinodactyly of the little finger; Fifth finger clinodactyly; Permanent curving of the pinkie finger","HPO_Name__c":"Clinodactyly of the 5th finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2760","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Orthopedics","Pediatrics"],"Disease Category":["Cancer","Genetics","Congenital Abnormality"],"Cause":["Genetics"],"Account":["Congenital limb malformation"]},"synonyms":["oslam (osteosarcoma, limb anomalies, erythroid macrocytosis) syndrome"," osteosarcoma-limb anomalies-erythroid macrocytosis syndrome"," osteosarcoma, limb anomalies, and erythroid macrocytosis with megaloblastic marrow"," osteosarcoma, limb anomalies, and macrocytosis"," osteosarcoma, limb anomalies, erythroid macrocytosis syndrome"]}