{"Name":"Multiple epiphyseal dysplasia","DiseaseID__c":"GARD:0010756","id":10756,"encodedName":"multiple-epiphyseal-dysplasia","IsDeleted":false,"Disease_Name_Full__c":"Multiple epiphyseal dysplasia","Xref_IDs__c":"59708000; C0026760; DOID:12721; HP:0002654; MEDGEN:6461; MONDO:0016648; OMIMPS:132400; ORPHA:251","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0016648","Disease_Description__c":"A rare group of primary bone dysplasia disorders characterized by the association of epiphyseal anomalies of long bones causing joint pain early in life, recurrent osteochondritis and early arthrosis. This group contains an heterogeneous group of diseases with variable expression. Common reported clinical signs include waddling gait and pain at onset, and moderate short stature. Some forms are mainly limited to the femoral epiphyses, while several other syndromes are characterized by the association of multiple epiphyseal dysplasia with other clinical manifestations such as myopia, deafness and facial dysmorphism. Diagnosis relies on identification of the radiological features.","GARD_Name__c":"Multiple epiphyseal dysplasia","GARD_Synonym__c":"dominant multiple epiphyseal dysplasia; edm; fairbanks-ribbing type epiphyseal dysplasia; med; med - multiple epiphyseal dysplasia; multiple epiphyseal dysplasia (disease); polyepiphyseal dysplasia","Curated_Disease_Description_Source__c":"GARD:0010756","Curated_Disease_Description__c":"Multiple epiphyseal dysplasia is a disorder of cartilage and bone development primarily affecting the ends of the long bones in the arms and legs (epiphyses). There are two types of multiple epiphyseal dysplasia, which can be distinguished by their pattern of inheritance. Both the dominant and recessive types have relatively mild signs and symptoms, including joint pain that most commonly affects the hips and knees, early-onset arthritis, and a waddling walk. Although some people with multiple epiphyseal dysplasia have mild short stature as adults, most are of normal height. The majority of individuals are diagnosed during childhood; however, some mild cases may not be diagnosed until adulthood. Recessive multiple epiphyseal dysplasia is distinguished from the dominant type by malformations of the hands, feet, and knees and abnormal curvature of the spine (scoliosis). About 50 percent of individuals with recessive multiple epiphyseal dysplasia are born with at least one abnormal feature, including an inward- and upward-turning foot (clubfoot), an opening in the roof of the mouth (cleft palate), an unusual curving of the fingers or toes (clinodactyly), or ear swelling. An abnormality of the kneecap called a double-layered patella is also relatively common.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:251","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016648","ORPHANET_ID__c":"ORPHA:251","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia epifisaria múltiple","Spanish_Description_Source__c":"ORPHA:251","Spanish_Description__c":"Es un grupo poco frecuente de displasias óseas primarias caracterizado por la asociación de anomalías epifisarias de los huesos largos que ocasionan dolor articular a una edad temprana, osteocondritis recidivante y artrosis precoz. Este grupo comprende un conjunto heterogéneo de enfermedades de expresión variable. Con frecuencia, los signos clínicos descritos incluyen marcha anserina y dolor al inicio, así como talla baja moderada. Algunas formas se limitan principalmente a las epífisis femorales, mientras que otros síndromes están caracterizados por la asociación de displasia epifisaria múltiple acompañada de otras manifestaciones clínicas tales como miopía, pérdida auditiva y dismorfia facial. El diagnóstico se basa en la identificación de las características radiológicas.","Spanish_Disease_Name__c":"displasia epifisaria múltiple","Spanish_GARD_Synonym__c":"displasia poliepifisaria; edm; med","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 is a disorder of cartilage and bone development primarily affecting the ends of the long bones in the arms and legs (epiphyses). There are two types of multiple epiphyseal dysplasia, which can be distinguished by their pattern of inheritance. Both the dominant and recessive types have relatively mild signs and symptoms, including joint pain that most commonly affects the hips and knees, early-onset arthritis, and a waddling walk. Although some people with multiple epiphyseal dysplasia have mild short stature as adults, most are of normal height. The majority of individuals are diagnosed during childhood; however, some mild cases may not be diagnosed until adulthood. Recessive multiple epiphyseal dysplasia is distinguished from the dominant type by malformations of the hands, feet, and knees and abnormal curvature of the spine (scoliosis). About 50 percent of individuals with recessive multiple epiphyseal dysplasia are born with at least one abnormal feature, including an inward- and upward-turning foot (clubfoot), an opening in the roof of the mouth (cleft palate), an unusual curving of the fingers or toes (clinodactyly), or ear swelling. An abnormality of the kneecap called a double-layered patella is also relatively common.","Curated_Disease_Description_Source__c":"GARD:0010756","GARD_Synonym__c":"dominant multiple epiphyseal dysplasia; edm; fairbanks-ribbing type epiphyseal dysplasia; med; med - multiple epiphyseal dysplasia; multiple epiphyseal dysplasia (disease); polyepiphyseal dysplasia","Name":"Multiple epiphyseal dysplasia","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"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":"Infancy","Provided_By__c":"ORPHA:251"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:251"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0026760"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/251","Source__c":"C0026760; MONDO:0016648; ORPHA:251","Xref__c":"ORPHA:251"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=59708000","Source__c":"C0026760; MONDO:0016648","Xref__c":"59708000"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS132400","Source__c":"MONDO:0016648","Xref__c":"OMIMPS:132400"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0026760","Source__c":"C0026760","Xref__c":"C0026760"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A12721","Source__c":"MONDO:0016648","Xref__c":"DOID:12721"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=6461","Source__c":"C0026760","Xref__c":"MEDGEN:6461"},{"URL__c":"https://medlineplus.gov/genetics/condition/multiple-epiphyseal-dysplasia","Source__c":"GARD:0010756","Xref__c":"https://medlineplus.gov/genetics/condition/multiple-epiphyseal-dysplasia"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0002654","Source__c":"C0026760","Xref__c":"HP:0002654"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016648","Source__c":"GARD:0010756","Xref__c":"MONDO:0016648"}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["dominant multiple epiphyseal dysplasia"," edm"," fairbanks-ribbing type epiphyseal dysplasia"," med"," med - multiple epiphyseal dysplasia"," multiple epiphyseal dysplasia (disease)"," polyepiphyseal dysplasia"]}