{"Name":"Antecubital pterygium syndrome","DiseaseID__c":"GARD:0004570","id":4570,"encodedName":"antecubital-pterygium-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Antecubital pterygium syndrome","Xref_IDs__c":"784351000; C1867439; C566738; MEDGEN:401231; MONDO:0008339; OMIM:178200; ORPHA:2987","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":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"GARD:0004570","Disease_Description__c":"Antecubital pterygium is characterized by and antecubital webbing, posterior subluxation (dislocation) of radial head, maldevelopment of radioulnar joint, and limited elbow extension with unimpeded elbow flexion. Most reported cases come from the island of Mauritius or nearby islands. It is inherited in an autosomal dominant fashion. This condition is sometimes found as a symptom of nail-patella syndrome.","GARD_Name__c":"Antecubital pterygium syndrome","GARD_Synonym__c":"antecubital pterygium; pterygium cubitale; webbed elbow","Curated_Disease_Description_Source__c":"GARD:0004570","Curated_Disease_Description__c":"A rare, genetic, dermis disorder characterized by bilateral, fairly symmetrical, antecubital webbing extending from distal third of humerus to proximal third of forearm, associated with musculoskeletal abnormalities (i.e. absent long head of triceps, bilateral posterior dislocation of the radial head and hypoplasia of the olecranon processes) and absent skin creases over the terminal interphalangeal joints of fingers, clinically manifesting with moderate to severe elbow extension and supination limitation.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:2987","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008339","ORPHANET_ID__c":"ORPHA:2987","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de pterigium antecubital","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de pterigium antecubital","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:89826","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, dermis disorder characterized by bilateral, fairly symmetrical, antecubital webbing extending from distal third of humerus to proximal third of forearm, associated with musculoskeletal abnormalities (i.e. absent long head of triceps, bilateral posterior dislocation of the radial head and hypoplasia of the olecranon processes) and absent skin creases over the terminal interphalangeal joints of fingers, clinically manifesting with moderate to severe elbow extension and supination limitation.","Curated_Disease_Description_Source__c":"GARD:0004570","GARD_Synonym__c":"antecubital pterygium; pterygium cubitale; webbed elbow","Name":"Antecubital pterygium 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":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2987"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2987"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1867439","Source__c":"C1867439","Xref__c":"C1867439"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566738","Source__c":"MONDO:0008339","Xref__c":"C566738"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=401231","Source__c":"C1867439","Xref__c":"MEDGEN:401231"},{"URL__c":"https://www.orpha.net/en/disease/detail/2987","Source__c":"C1867439; MONDO:0008339; ORPHA:2987","Xref__c":"ORPHA:2987"},{"URL__c":"https://www.omim.org/entry/178200","Source__c":"C1867439; MONDO:0008339; ORPHA:2987","Xref__c":"OMIM:178200"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0009760","Source__c":"C1867439","Xref__c":"HP:0009760"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=784351000","Source__c":"C1867439","Xref__c":"784351000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008339","Source__c":"GARD:0004570","Xref__c":"MONDO:0008339"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:178200","Feature__r":{"HPO_Description__c":"Partial dislocation of the head of the radius in the posterior direction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005739","HPO_Name__c":"Posterior subluxation of radial head","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:178200","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005829","HPO_Name__c":"Maldevelopment of radioulnar joint","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:178200","Feature__r":{"HPO_Description__c":"Limited ability to straighten the arm at the elbow joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001377","HPO_Synonym__c":"Decreased elbow extension; Elbow limited extension; Limitation of elbow extension; Limited elbow extension; Limited extension at elbows; Limited forearm extension; Reduced elbow extension; Restricted elbow extension","HPO_Name__c":"Limited elbow extension","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:178200","Feature__r":{"HPO_Description__c":"Pterygium affecting the elbow. This is a cutaneous web that can lead to severe flexion contracture of the elbow joint. Antecubital pterygium can be unilateral, bilateral, symmetric, or asysmmetric.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009760","HPO_Synonym__c":"Pterygium cubitale; Webbed elbow","HPO_Name__c":"Antecubital pterygium","Feature_System__c":"Skin System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["antecubital pterygium"," pterygium cubitale"," webbed elbow"]}