{"Name":"Tibial aplasia-ectrodactyly syndrome","DiseaseID__c":"GARD:0001369","id":1369,"encodedName":"tibial-aplasia-ectrodactyly-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Tibial aplasia-ectrodactyly syndrome","Xref_IDs__c":"C4551989; MEDGEN:1639878; MONDO:0018050; ORPHA:3329","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0018050","Disease_Description__c":"Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia.","GARD_Name__c":"Tibial aplasia-ectrodactyly syndrome","GARD_Synonym__c":"aplasia of tibia with split hand split foot deformity; aplasia of tibia with split-hand/split-foot deformity; shfld syndrome; shfm associated with aplasia of long bones; split hand foot malformation with long bone deficiency; split hand/foot malformation with long bone deficiency; split-hand/foot malformation associated with aplasia of long bones; th-shfm; tibial aplasia and ectrodactyly syndrome; tibial hemimelia ectrodactyly syndrome; tibial hemimelia with split hand/foot malformation; tibial hemimelia-ectrodactyly syndrome","Curated_Disease_Description_Source__c":"MONDO:0018050","Curated_Disease_Description__c":"Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy, at Birth, and as an Infant","SourceID__c":"ORPHA:3329","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018050","ORPHANET_ID__c":"ORPHA:3329","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de aplasia tibial-ectrodactilia","Spanish_Description_Source__c":"ORPHA:3329","Spanish_Description__c":"El síndrome de aplasia tibial-ectrodactilia es una enfermedad rara caracterizada por malformaciones ectrodactílicas congénitas en las extremidades asociadas con aplasia o hipoplasia tibial.","Spanish_Disease_Name__c":"síndrome de aplasia tibial-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":"Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia.","Curated_Disease_Description_Source__c":"MONDO:0018050","GARD_Synonym__c":"aplasia of tibia with split hand split foot deformity; aplasia of tibia with split-hand/split-foot deformity; shfld syndrome; shfm associated with aplasia of long bones; split hand foot malformation with long bone deficiency; split hand/foot malformation with long bone deficiency; split-hand/foot malformation associated with aplasia of long bones; th-shfm; tibial aplasia and ectrodactyly syndrome; tibial hemimelia ectrodactyly syndrome; tibial hemimelia with split hand/foot malformation; tibial hemimelia-ectrodactyly syndrome","Name":"Tibial aplasia-ectrodactyly syndrome","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Reach: The Association for Children with Hand or Arm Deficiency","Website__c":"https://www.reach.org.uk/"},{"Account_Name__c":"Birth Defect Research for Children","Website__c":"https://www.birthdefects.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":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Craniofacial Anomalies","Tag_Category__c":"Account","curated_tag_name":"Craniofacial anomalies"},{"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":"Infancy","Provided_By__c":"ORPHA:3329"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:3329"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:3329"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001369","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4551989","Source__c":"C4551989","Xref__c":"C4551989"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1639878","Source__c":"C4551989","Xref__c":"MEDGEN:1639878"},{"URL__c":"https://www.orpha.net/en/disease/detail/3329","Source__c":"C4551989; MONDO:0018050; ORPHA:3329","Xref__c":"ORPHA:3329"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018050","Source__c":"GARD:0001369","Xref__c":"MONDO:0018050"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715531000","Source__c":"C4551989","Xref__c":"715531000"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3329","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001162","HPO_Synonym__c":"Extra little finger; Extra pinkie finger; Extra pinky finger; Polydactyly affecting the 5th finger; Postaxial polydactyly of fingers; Postaxial polydactyly of hand; Postaxial polydactyly of hands","HPO_Name__c":"Postaxial hand polydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3329","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001156","HPO_Synonym__c":"Brachydactyly syndrome; Short fingers or toes","HPO_Name__c":"Brachydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3329","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Bowing (abnormal curvature) of the femur.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002980","HPO_Synonym__c":"Bowed femur; Bowed femura; Bowed femurs; Bowed thighbone","HPO_Name__c":"Femoral bowing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3329","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence of the patella.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006443","HPO_Synonym__c":"Absent kneecap; Absent patella; Absent patellae; Absent patellas; Aplastic patellae","HPO_Name__c":"Patellar aplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3329","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A pterygium (or pterygia) occurring in the popliteal region (the back of the knee).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009756","HPO_Name__c":"Popliteal pterygium","Feature_System__c":"Skin System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3329","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001539","HPO_Synonym__c":"Exomphalos; Omphalocoele","HPO_Name__c":"Omphalocele","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3329","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as \\\"bony\\\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as \\\"Symphalangism\\\".","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006101","HPO_Synonym__c":"Partial syndactyly","HPO_Name__c":"Finger syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3329","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the tibia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005772","HPO_Synonym__c":"Absent/hypoplastic tibia; Absent/small shankbone; Absent/small shinbone; Absent/underdeveloped shankbone; Absent/underdeveloped shinbone; Aplastic/hypoplastic tibia","HPO_Name__c":"Aplasia/Hypoplasia of the tibia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3329","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000396","HPO_Synonym__c":"Over-folded helices; Overfolded ears; Overfolded helices","HPO_Name__c":"Overfolded helix","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3329","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any anomaly of the structure of the femur.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002823","HPO_Synonym__c":"Abnormality of femur morphology; Abnormality of the femora; Abnormality of the thighbone","HPO_Name__c":"Abnormal femur morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3329","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the fibula.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003038","HPO_Synonym__c":"Hypoplastic fibula; Short calf bone; Short fibula; Short fibulae","HPO_Name__c":"Fibular hypoplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3329","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001177","HPO_Synonym__c":"Extra thumb; Polydactyly affecting the thumb; Preaxial polydactyly of hands; Supernumerary thumb; thumb polydactyly","HPO_Name__c":"Preaxial hand polydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3329","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100257","HPO_Synonym__c":"Cleft hand; Lobster claw hand","HPO_Name__c":"Ectrodactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3329","HPO_Frequency__c":"Very frequent (80-99%)","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"}},{"Provided_By__c":"ORPHA:3329","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the ulna.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006495","HPO_Synonym__c":"Absence/underdevelopment of inner forearm bone; Absent-hypoplastic ulnae; Absent/small ulna; Hypoplasia or unilateral/bilateral absence of ulna; Ulnar hypoplasia/aplasia","HPO_Name__c":"Aplasia/Hypoplasia of the ulna","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3329","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal shortening of the femur.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003097","HPO_Synonym__c":"Femoral hypoplasia; Hypoplasia of the femora; Short femurs; Short thighbone","HPO_Name__c":"Short femur","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3329","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction in the freedom of movement of one or more joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001376","HPO_Synonym__c":"Decreased joint mobility; Decreased mobility of joints; Limitation of joint mobility; Limited joint mobility; Limited joint motion","HPO_Name__c":"Limitation of joint mobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3329","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly of the calf bone (fibula), one of the two bones of the calf.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002991","HPO_Synonym__c":"Abnormality of fibula morphology; Abnormality of the calf bone","HPO_Name__c":"Abnormal fibula morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Otolaryngology","Pediatrics"],"Account":["Craniofacial Anomalies","Congenital limb malformation"]},"synonyms":["aplasia of tibia with split hand split foot deformity"," aplasia of tibia with split-hand/split-foot deformity"," shfld syndrome"," shfm associated with aplasia of long bones"," split hand foot malformation with long bone deficiency"," split hand/foot malformation with long bone deficiency"," split-hand/foot malformation associated with aplasia of long bones"," th-shfm"," tibial aplasia and ectrodactyly syndrome"," tibial hemimelia ectrodactyly syndrome"," tibial hemimelia with split hand/foot malformation"," tibial hemimelia-ectrodactyly syndrome"]}