{"Name":"Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia","DiseaseID__c":"GARD:0017015","id":17015,"encodedName":"multiple-epiphyseal-dysplasia-with-severe-proximal-femoral-dysplasia","IsDeleted":false,"Disease_Name_Full__c":"Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia","Xref_IDs__c":"C1836315; C563736; MEDGEN:324484; MONDO:0012253; OMIM:609324; ORPHA:166029","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":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0012253","Disease_Description__c":"Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia is a rare primary bone dysplasia characterized by severe, early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated.","GARD_Name__c":"Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia","GARD_Synonym__c":"multiple epiphyseal dysplasia with severe proximal femoral dysplasia","Curated_Disease_Description_Source__c":"MONDO:0012253","Curated_Disease_Description__c":"Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia is a rare primary bone dysplasia characterized by severe, early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:166029","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012253","ORPHANET_ID__c":"ORPHA:166029","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de displasia epifisaria múltiple-displasia femoral proximal grave","Spanish_Description_Source__c":"ORPHA:166029","Spanish_Description__c":"La displasia epifisaria múltiple con displasia grave femoral proximal, es una displasia ósea primaria poco frecuente caracterizada por displasia severa del fémur proximal de inicio temprano, con ausencia casi completa de núcleos de osificación secundarios y un desarrollo anómalo del cuello femoral (corto y ancho con metáfisis irregulares). Se asocia con anomalías de la marcha, talla baja leve, artralgia, rigidez articular con movilidad limitada de las caderas y acetábulo irregular, y dolor de cadera y rodilla. También están asociados coxa vara y leves cambios espinales","Spanish_Disease_Name__c":"síndrome de displasia epifisaria múltiple-displasia femoral proximal grave","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":"Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia is a rare primary bone dysplasia characterized by severe, early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated.","Curated_Disease_Description_Source__c":"MONDO:0012253","GARD_Synonym__c":"multiple epiphyseal dysplasia with severe proximal femoral dysplasia","Name":"Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Little People of America","Website__c":"https://www.lpaonline.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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:166029"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563736","Source__c":"MONDO:0012253","Xref__c":"C563736"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1836315","Source__c":"C1836315","Xref__c":"C1836315"},{"URL__c":"https://www.omim.org/entry/609324","Source__c":"C1836315; MONDO:0012253; ORPHA:166029","Xref__c":"OMIM:609324"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=324484","Source__c":"C1836315","Xref__c":"MEDGEN:324484"},{"URL__c":"https://www.orpha.net/en/disease/detail/166029","Source__c":"C1836315; MONDO:0012253","Xref__c":"ORPHA:166029"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763893008","Source__c":"C1836315","Xref__c":"763893008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012253","Source__c":"GARD:0017015","Xref__c":"MONDO:0012253"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:609324","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002656","HPO_Synonym__c":"Abnormal development of the ends of long bones in arms and legs","HPO_Name__c":"Epiphyseal dysplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609324","Feature__r":{"HPO_Description__c":"An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100864","HPO_Synonym__c":"Hypoplasia of the femoral neck; Hypoplastic femoral neck; Short femoral necks; Short neck of thighbone","HPO_Name__c":"Short femoral neck","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609324","Feature__r":{"HPO_Description__c":"A flattened vertebral body shape with reduced distance between the vertebral endplates.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000926","HPO_Synonym__c":"Flat vertebral bodies; Flattened vertebrae; Flattened vertebral bodies","HPO_Name__c":"Platyspondyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609324","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"}},{"Provided_By__c":"OMIM:609324","Feature__r":{"HPO_Description__c":"An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006429","HPO_Synonym__c":"Broadening of femoral neck; Wide femoral neck; Wide neck of thigh bone; Widened femoral necks","HPO_Name__c":"Broad femoral neck","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609324","Feature__r":{"HPO_Description__c":"An abnormal flattening of the distal epiphysis of femur.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006398","HPO_Synonym__c":"Flat end part of outermost thighbone; Flattened distal femoral epiphyses","HPO_Name__c":"Flat distal femoral epiphysis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609324","Feature__r":{"HPO_Description__c":"An abnormality affecting one or both hands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001155","HPO_Synonym__c":"Abnormal hands; Abnormality of the hand; Hand anomalies; Hand deformities","HPO_Name__c":"Abnormality of the hand","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609324","Feature__r":{"HPO_Description__c":"Joint pain affecting the hip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003365","HPO_Synonym__c":"Coxalgia; Hip arthralgia; Hip joint pain","HPO_Name__c":"Arthralgia of the hip","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609324","Feature__r":{"HPO_Description__c":"Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002812","HPO_Name__c":"Coxa vara","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609324","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002834","HPO_Synonym__c":"Flared metaphysis of thigh bone","HPO_Name__c":"Flared femoral metaphysis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609324","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004582","HPO_Name__c":"Irregularity of vertebral bodies","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609324","Feature__r":{"HPO_Description__c":"Joint pain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002829","HPO_Synonym__c":"Arthralgias; Joint pain","HPO_Name__c":"Arthralgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609324","Feature__r":{"HPO_Description__c":"Irregularity of the normally smooth surface of the proximal metaphysis of the femur.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003411","HPO_Synonym__c":"Irregular proximal femoral metaphyses","HPO_Name__c":"Proximal femoral metaphyseal irregularity","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609324","Feature__r":{"HPO_Description__c":"The legs angle inward, such that the knees are close together and the ankles far apart.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002857","HPO_Synonym__c":"Genu valga; Genu valgus; Genua valga; Knee joint valgus deformity; Knock knees","HPO_Name__c":"Genu valgum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["multiple epiphyseal dysplasia with severe proximal femoral dysplasia"]}