{"Name":"Dysplasia of head of femur, Meyer type","DiseaseID__c":"GARD:0020098","id":20098,"encodedName":"dysplasia-of-head-of-femur-meyer-type","IsDeleted":false,"Disease_Name_Full__c":"Dysplasia of head of femur, Meyer type","Xref_IDs__c":"715861004; C4274970; MEDGEN:909364; MONDO:0015678; ORPHA:168621","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"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":4,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0015678","Disease_Description__c":"Meyer dysplasia of the femoral head is a mild localized form of skeletal dysplasia characterized by delayed, irregular ossification of femoral capital epiphysis.","GARD_Name__c":"Dysplasia of head of femur, Meyer type","GARD_Synonym__c":"dysplasia epiphysealis capitis femoris; dysplasia of head of femur meyer type; meyer dysplasia; meyer dysplasia of femoral head","Curated_Disease_Description_Source__c":"ORPHA:168621","Curated_Disease_Description__c":"Dysplasia of head of femur, Meyer type is a mild localized form of skeletal dysplasia characterized by delayed, irregular ossification of femoral capital epiphysis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:168621","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015678","ORPHANET_ID__c":"ORPHA:168621","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia de la cabeza femoral tipo meyer","Spanish_Description_Source__c":"ORPHA:168621","Spanish_Description__c":"La displasia de Meyer de la cabeza femoral es una forma leve y localizada de displasia esquelética que se caracteriza por una osificación irregular y retrasada de la epífisis de la cabeza femoral.","Spanish_Disease_Name__c":"displasia de la cabeza femoral tipo meyer","Spanish_GARD_Synonym__c":"displasia de meyer; displasia epifisaria de la cabeza femoral","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":"Dysplasia of head of femur, Meyer type is a mild localized form of skeletal dysplasia characterized by delayed, irregular ossification of femoral capital epiphysis.","Curated_Disease_Description_Source__c":"ORPHA:168621","GARD_Synonym__c":"dysplasia epiphysealis capitis femoris; dysplasia of head of femur meyer type; meyer dysplasia; meyer dysplasia of femoral head","Name":"Dysplasia of head of femur, Meyer type","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:168621"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:168621"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715861004","Source__c":"C4274970; MONDO:0015678","Xref__c":"715861004"},{"URL__c":"https://www.orpha.net/en/disease/detail/168621","Source__c":"C4274970; MONDO:0015678; ORPHA:168621","Xref__c":"ORPHA:168621"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4274970","Source__c":"C4274970","Xref__c":"C4274970"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=909364","Source__c":"C4274970","Xref__c":"MEDGEN:909364"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015678","Source__c":"GARD:0020098","Xref__c":"MONDO:0015678"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:168621","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002750","HPO_Synonym__c":"Delayed bone age; Delayed bone age before puberty; Delayed bone maturation; Delayed skeletal development; Retarded bone age; Skeletal maturation retardation","HPO_Name__c":"Delayed skeletal maturation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168621","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A decreased ability to move the femur at the hip joint associated with a decreased range of motion of the hip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008800","HPO_Synonym__c":"Limited hip movement","HPO_Name__c":"Limited hip movement","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168621","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002515","HPO_Synonym__c":"Waddling gait; Waddling walk","HPO_Name__c":"Waddling gait","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168621","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormally flattened femoral head.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008812","HPO_Synonym__c":"Flat head of thigh bone","HPO_Name__c":"Flattened femoral head","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168621","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 leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012514","HPO_Synonym__c":"Leg pain; Lower limb pain","HPO_Name__c":"Lower limb pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168621","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003565","HPO_Synonym__c":"Elevated ESR; Elevated sedimentation rate; High erythrocyte sedimentation rate; High ESR; Increased erythrocyte sedimentation rate; Raised erythrocyte sedimentation rate","HPO_Name__c":"Elevated erythrocyte sedimentation rate","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:168621","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal increase in the number of leukocytes in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001974","HPO_Synonym__c":"Elevated white blood count; High white blood count; Increased blood leukocyte number; Leukocytosis","HPO_Name__c":"Increased total leukocyte count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168621","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:168621","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Body temperature elevated above the normal range.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001945","HPO_Synonym__c":"Fever; Hyperthermia; Pyrexia","HPO_Name__c":"Fever","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168621","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Increase in size of the tonsils, small collections of lymphoid tissue facing into the aerodigestive tract on either side of the back part of the throat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030812","HPO_Synonym__c":"Enlargement of tonsils; Tonsillar hypertrophy; tonsils large/hypertrophy","HPO_Name__c":"Enlarged tonsils","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168621","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"To avoid pain weight is put on the affected leg for as short a time as possible, resulting in a limp. The patients appear to be walking as if there were a thorn in the sole of the foot. To reduce the load on the affected leg the patients lift and lower their foot in a fixed ankle position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031955","HPO_Name__c":"Antalgic gait","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168621","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"There is normally one ossification center in the head of the femur. This term applies if there are multiple such centers.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008835","HPO_Name__c":"Multicentric femoral head ossification","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168621","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Delayed ossification of the femoral head.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008829","HPO_Name__c":"Delayed femoral head ossification","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Orthopedics","Pediatrics"]},"synonyms":["dysplasia epiphysealis capitis femoris"," dysplasia of head of femur meyer type"," meyer dysplasia"," meyer dysplasia of femoral head"]}