{"Name":"Fibular aplasia-ectrodactyly syndrome","DiseaseID__c":"GARD:0002331","id":2331,"encodedName":"fibular-aplasia-ectrodactyly-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Fibular aplasia-ectrodactyly syndrome","Xref_IDs__c":"C1862100; C537930; MEDGEN:396290; MONDO:0007225; OMIM:113310; ORPHA:1118","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":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007225","Disease_Description__c":"A rare, genetic, congenital dysostosis disorder characterized by fibular aplasia (or hypoplasia) associated with ectrodactyly and/or brachydactyly or syndactyly. Additonal variable features include shortening of the femur, as well as tibial, hip, knee, and/or ankle defects.","GARD_Name__c":"Fibular aplasia-ectrodactyly syndrome","GARD_Synonym__c":"brachydactyly-ectrodactyly with fibular aplasia or hypoplasia","Curated_Disease_Description_Source__c":"MONDO:0007225","Curated_Disease_Description__c":"A rare, genetic, congenital dysostosis disorder characterized by fibular aplasia (or hypoplasia) associated with ectrodactyly and/or brachydactyly or syndactyly. Additional variable features include shortening of the femur, as well as tibial, hip, knee, and/or ankle defects.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:1118","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007225","ORPHANET_ID__c":"ORPHA:1118","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de aplasia de peroné-ectrodactilia","Spanish_Description_Source__c":"ORPHA:1118","Spanish_Description__c":"Es un síndrome epiléptico poco frecuente de origen genético caracterizado por epilepsia, telangiectasias conjuntivales palpebrales, discapacidad intelectual de muy leve a moderada, niveles reducidos de IgA sérica, acortamiento del quinto dedo de la mano y rasgos faciales dismórficos (incluyendo hirsutismo frontal, sinofridia, narinas antevertidas, orejas prominentes, filtrum largo, implantes dentales irregulares, micrognatia). No se han descrito más casos en la literatura desde 1978.","Spanish_Disease_Name__c":"síndrome de aplasia de peroné-ectrodactilia","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93890","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":"A rare, genetic, congenital dysostosis disorder characterized by fibular aplasia (or hypoplasia) associated with ectrodactyly and/or brachydactyly or syndactyly. Additional variable features include shortening of the femur, as well as tibial, hip, knee, and/or ankle defects.","Curated_Disease_Description_Source__c":"MONDO:0007225","GARD_Synonym__c":"brachydactyly-ectrodactyly with fibular aplasia or hypoplasia","Name":"Fibular aplasia-ectrodactyly syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Congenital limb malformation","Tag_Category__c":"Account","curated_tag_name":"Limb anomalies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1118"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/1118","Source__c":"C1862100; MONDO:0007225","Xref__c":"ORPHA:1118"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=396290","Source__c":"C1862100","Xref__c":"MEDGEN:396290"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537930","Source__c":"MONDO:0007225","Xref__c":"C537930"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1862100","Source__c":"C1862100","Xref__c":"C1862100"},{"URL__c":"https://www.omim.org/entry/113310","Source__c":"C1862100; MONDO:0007225; ORPHA:1118","Xref__c":"OMIM:113310"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007225","Source__c":"GARD:0002331","Xref__c":"MONDO:0007225"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1118","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the fibula.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006492","HPO_Synonym__c":"Absent/small calf bone; Absent/underdeveloped calf bone; Fibular aplasia/hypoplasia; Hypoplastic/aplastic fibulae","HPO_Name__c":"Aplasia/Hypoplasia of the fibula","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1118","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The birth of a baby of less than 37 weeks of gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001622","HPO_Synonym__c":"Premature birth; Premature delivery; Premature delivery of affected infants; Preterm birth; Preterm delivery; Shortened gestation time","HPO_Name__c":"Premature birth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1118","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the ulna, a bone of the forearm the extends from the elbow to the little finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040071","HPO_Name__c":"Abnormal morphology of ulna","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1118","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middle fingers as far as oligo- or monodactyl hands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001171","HPO_Synonym__c":"Ectrodactyly of the hand; Hand ectrodactyly; Split hand; Split-hand","HPO_Name__c":"Split hand","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["brachydactyly-ectrodactyly with fibular aplasia or hypoplasia"]}