{"Name":"Mazabraud syndrome","DiseaseID__c":"GARD:0018853","id":18853,"encodedName":"mazabraud-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Mazabraud syndrome","Xref_IDs__c":"699251001; C3697137; MEDGEN:784403; MONDO:0018933; ORPHA:57782","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018933","Disease_Description__c":"Mazabraud syndrome is a rare primary bone dysplasia (see this term) characterized by the association of fibrous dysplasia with intramuscular myxomas. Fibrous dysplasia (usually polyostotic, sometimes monostotic) occurs during the growth period and can be asymptomatic or can present with pain, skeletal deformities or fractures while intramuscular myxoma, associated with polyostotic fibrous dysplasia (see this term) is usually multifocal, typically occuring in the vicinity of skeletal lesions, and presents in adulthood as a painless soft-tissue mass (most commonly in the thigh). Although it is a benign condition, local recurrences of myxomas after incomplete excision and malignant transformation of a fibrous dysplastic lesion into osteogenic sarcoma have been reported.","GARD_Name__c":"Mazabraud syndrome","GARD_Synonym__c":"fibrous dysplasia of bone with intramuscular myxoma; fibrous dysplasia with intramuscular myxoma; myxoma with fibrous dysplasia","Curated_Disease_Description_Source__c":"ORPHA:57782","Curated_Disease_Description__c":"Mazabraud syndrome is a rare primary bone dysplasia characterized by the association of fibrous dysplasia with intramuscular myxomas. Fibrous dysplasia (usually polyostotic, sometimes monostotic) occurs during the growth period and can be asymptomatic or can present with pain, skeletal deformities or fractures while intramuscular myxoma, associated with polyostotic fibrous dysplasia is usually multifocal, typically occuring in the vicinity of skeletal lesions, and presents in adulthood as a painless soft-tissue mass (most commonly in the thigh). Although it is a benign condition, local recurrences of myxomas after incomplete excision and malignant transformation of a fibrous dysplastic lesion into osteogenic sarcoma have been reported.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:57782","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018933","ORPHANET_ID__c":"ORPHA:57782","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de mazabraud","Spanish_Description_Source__c":"ORPHA:57782","Spanish_Description__c":"El síndrome de Mazabraud es una displasia ósea primaria rara (consulte este término) caracterizada por la asociación de displasia fibrosa y mixomas intramusculares. La displasia fibrosa (normalmente poliostótica, a veces monostótica) ocurre durante el periodo de crecimiento y puede ser asintomática o presentarse acompañada de dolor, deformaciones esqueléticas o fracturas mientras que el mixoma intramuscular, asociado con la displasia fibrosa ósea poliostótica (consulte este término) es normalmente multifocal, generalmente dándose en las proximidades de las lesiones esqueléticas, y se presenta en la edad adulta como una masa de tejido blando indolora (normalmente en el muslo). Aunque es una condición benigna, se ha descrito la recurrencia local de mixomas tras una extirpación incompleta y la transformación maligna de una lesión displásica fibrosa en un sarcoma osteogénico.","Spanish_Disease_Name__c":"síndrome de mazabraud","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93419","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":"Mazabraud syndrome is a rare primary bone dysplasia characterized by the association of fibrous dysplasia with intramuscular myxomas. Fibrous dysplasia (usually polyostotic, sometimes monostotic) occurs during the growth period and can be asymptomatic or can present with pain, skeletal deformities or fractures while intramuscular myxoma, associated with polyostotic fibrous dysplasia is usually multifocal, typically occuring in the vicinity of skeletal lesions, and presents in adulthood as a painless soft-tissue mass (most commonly in the thigh). Although it is a benign condition, local recurrences of myxomas after incomplete excision and malignant transformation of a fibrous dysplastic lesion into osteogenic sarcoma have been reported.","Curated_Disease_Description_Source__c":"ORPHA:57782","GARD_Synonym__c":"fibrous dysplasia of bone with intramuscular myxoma; fibrous dysplasia with intramuscular myxoma; myxoma with fibrous dysplasia","Name":"Mazabraud 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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:57782"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/57782","Source__c":"C3697137; MONDO:0018933; ORPHA:57782","Xref__c":"ORPHA:57782"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3697137","Source__c":"C3697137","Xref__c":"C3697137"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=699251001","Source__c":"C3697137; MONDO:0018933","Xref__c":"699251001"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=784403","Source__c":"C3697137","Xref__c":"MEDGEN:784403"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018933","Source__c":"GARD:0018853","Xref__c":"MONDO:0018933"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:57782","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002757","HPO_Synonym__c":"Frequent fractures; Increased fracture rate; Increased fractures; Multiple fractures; Multiple spontaneous fractures; Recurrent fractures; Varying degree of multiple fractures","HPO_Name__c":"Recurrent fractures","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:57782","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the skeletal system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000924","HPO_Synonym__c":"Abnormality of the skeletal system; Skeletal abnormalities; Skeletal anomalies","HPO_Name__c":"Abnormality of the skeletal system","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:57782","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Tumor-like growths that consist of replacement of the medullary bone with fibrous tissue, causing the expansion and weakening of the areas of bone involved. Especially when involving the skull or facial bones, the lesions can cause externally visible deformities. The skull is often, but not necessarily, affected, and any other bone or bones may be involved. Fibrous dysplasia can either effect isolated bones (Monostotic fibrous dysplasia) or also generalized all bones of the body (Polyostotic fibrous dysplasia).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010734","HPO_Name__c":"Fibrous dysplasia of the bones","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:57782","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 bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002653","HPO_Synonym__c":"Bone pain","HPO_Name__c":"Bone pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:57782","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A general term describing features characterized by abnormal development of bones and connective tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002652","HPO_Name__c":"Skeletal dysplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Orthopedics"],"Disease Category":["Cancer","Genetics","Congenital Abnormality"],"Cause":["Genetics"]},"synonyms":["fibrous dysplasia of bone with intramuscular myxoma"," fibrous dysplasia with intramuscular myxoma"," myxoma with fibrous dysplasia"]}