{"Name":"Mesomelic dysplasia, Savarirayan type","DiseaseID__c":"GARD:0010584","id":10584,"encodedName":"mesomelic-dysplasia-savarirayan-type","IsDeleted":false,"Disease_Name_Full__c":"Mesomelic dysplasia, Savarirayan type","Xref_IDs__c":"715652002; C1854470; C565349; MEDGEN:343129; MONDO:0011530; OMIM:605274; ORPHA:85170","USA_Estimate__c":null,"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":null,"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":2,"Description_Source__c":"MONDO:0011530","Disease_Description__c":"Mesomelic dysplasia, Savarirayan type is characterised by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported.","GARD_Name__c":"Mesomelic dysplasia, Savarirayan type","GARD_Synonym__c":"mesomelic dysplasia savarirayan type; mesomelic dysplasia with absent fibula and triangular tibia; mesomelic dysplasia with absent fibulas and triangular tibias; triangular tibia-fibular aplasia syndrome","Curated_Disease_Description_Source__c":"MONDO:0011530","Curated_Disease_Description__c":"Mesomelic dysplasia, Savarirayan type is characterised by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported.","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:85170","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011530","ORPHANET_ID__c":"ORPHA:85170","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia mesomélica tipo savarirayan","Spanish_Description_Source__c":"ORPHA:85170","Spanish_Description__c":"Es un trastorno caracterizado por tibias marcadamente hipoplásicas y de forma triangular, y ausencia de peroné. Hasta la fecha se han notificado dos casos esporádicos. También se ha descrito mesomelia moderada de los miembros superiores, ensanchamiento proximal del cúbito, anomalías pélvicas y marcada hipoplasia glenoidea bilateral.","Spanish_Disease_Name__c":"displasia mesomélica tipo savarirayan","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":"Mesomelic dysplasia, Savarirayan type is characterised by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported.","Curated_Disease_Description_Source__c":"MONDO:0011530","GARD_Synonym__c":"mesomelic dysplasia savarirayan type; mesomelic dysplasia with absent fibula and triangular tibia; mesomelic dysplasia with absent fibulas and triangular tibias; triangular tibia-fibular aplasia syndrome","Name":"Mesomelic dysplasia, Savarirayan type","estimateUsa":""}],"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:85170"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:85170"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715652002","Source__c":"C1854470; MONDO:0011530","Xref__c":"715652002"},{"URL__c":"https://www.omim.org/entry/605274","Source__c":"C1854470; MONDO:0011530; ORPHA:85170","Xref__c":"OMIM:605274"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=343129","Source__c":"C1854470","Xref__c":"MEDGEN:343129"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1854470","Source__c":"C1854470","Xref__c":"C1854470"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565349","Source__c":"MONDO:0011530","Xref__c":"C565349"},{"URL__c":"https://www.orpha.net/en/disease/detail/85170","Source__c":"C1854470; MONDO:0011530; ORPHA:85170","Xref__c":"ORPHA:85170"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011530","Source__c":"GARD:0010584","Xref__c":"MONDO:0011530"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:85170","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003027","HPO_Synonym__c":"Disproportionately short middle portion of limb; Mesomelic limb shortening; Mesomelic shortening of limbs; Symmetric mesomelic limb shortness","HPO_Name__c":"Mesomelia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85170","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Decreased width of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002868","HPO_Synonym__c":"Narrow iliac wings","HPO_Name__c":"Narrow iliac wing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85170","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased height of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008808","HPO_Synonym__c":"High iliac wings; Narrow, high iliac wings","HPO_Name__c":"High iliac wing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85170","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A condition in which the anterior part of the foot rotates outward away from the midline of the body and the heel remains straight.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010508","HPO_Name__c":"Metatarsus valgus","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85170","HPO_Frequency__c":"Very frequent (80-99%)","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"}},{"Provided_By__c":"ORPHA:85170","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006413","HPO_Synonym__c":"Broad wide portion of shankbone; Broad wide portion of shinbone","HPO_Name__c":"Broad tibial metaphyses","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85170","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A bending or abnormal curvature of a long bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006487","HPO_Synonym__c":"Bowed long bones; Bowing of long bones; Bowing of the long bones; Camptomelia; Diaphyseal bowing; Diaphyseal bowing of long bones","HPO_Name__c":"Bowing of the long bones","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85170","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85170","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Proximal radial shortening owing to a congenital defect of development.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006434","HPO_Synonym__c":"Proximal radial shortening","HPO_Name__c":"Hypoplasia of proximal radius","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85170","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:85170","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of the fibula.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002990","HPO_Synonym__c":"Absent calf bone; Absent fibulae; Absent-hypoplastic fibulae","HPO_Name__c":"Fibular aplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85170","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the glenoid fossa, which is the cavity in the lateral part of the scapula which articulates with the head of the humerus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006633","HPO_Synonym__c":"Glenoid hypoplasia; Hypoplastic glenoid fossa","HPO_Name__c":"Glenoid fossa hypoplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85170","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of a splayed (i.e.,flared) metaphyseal segment of the radius.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004018","HPO_Name__c":"Flared radial metaphysis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85170","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Displacement of the femur from its normal location in the hip joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002827","HPO_Synonym__c":"Dislocated femoral heads; Dislocated hips; Dislocation of hip; Dislocation of the femoral head; Hip dislocation","HPO_Name__c":"Hip dislocation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85170","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003042","HPO_Synonym__c":"Dislocations of the elbows; Elbow dislocation; Elbow dislocations; Radiocapitellar dislocation; Radiohumeral dislocation; Ulnohumeral dislocation","HPO_Name__c":"Elbow dislocation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["mesomelic dysplasia savarirayan type"," mesomelic dysplasia with absent fibula and triangular tibia"," mesomelic dysplasia with absent fibulas and triangular tibias"," triangular tibia-fibular aplasia syndrome"]}