{"Name":"Syndactyly-polydactyly-ear lobe syndrome","DiseaseID__c":"GARD:0005090","id":5090,"encodedName":"syndactyly-polydactyly-ear-lobe-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Syndactyly-polydactyly-ear lobe syndrome","Xref_IDs__c":"C1861347; C566091; MEDGEN:348333; MONDO:0008517; OMIM:186350; ORPHA:3259","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":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:3259","Disease_Description__c":"A rare, genetic, congenital limb malformation syndrome characterized by complete cutaneous syndactyly between toes 1-2, ulnar polydactyly (ranging from nubbins to an almost complete additional finger) and earlobe malformations. Additionally, abnormalities along the medial border of the foot are observed on X-ray imaging. There have been no further descriptions in the literature since 1976.","GARD_Name__c":"Syndactyly-polydactyly-ear lobe syndrome","GARD_Synonym__c":"spel syndrome; syndactyly-polydactyly-earlobe syndrome","Curated_Disease_Description_Source__c":"ORPHA:3259","Curated_Disease_Description__c":"A rare, genetic, congenital limb malformation syndrome characterized by complete cutaneous syndactyly between toes 1-2, ulnar polydactyly (ranging from nubbins to an almost complete additional finger) and earlobe malformations. Additionally, abnormalities along the medial border of the foot are observed on X-ray imaging. There have been no further descriptions in the literature since 1976.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:3259","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008517","ORPHANET_ID__c":"ORPHA:3259","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de sindactilia-polidactilia-lóbulo auditivo anómalo","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de sindactilia-polidactilia-lóbulo auditivo anómalo","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 limb malformation syndrome characterized by complete cutaneous syndactyly between toes 1-2, ulnar polydactyly (ranging from nubbins to an almost complete additional finger) and earlobe malformations. Additionally, abnormalities along the medial border of the foot are observed on X-ray imaging. There have been no further descriptions in the literature since 1976.","Curated_Disease_Description_Source__c":"ORPHA:3259","GARD_Synonym__c":"spel syndrome; syndactyly-polydactyly-earlobe syndrome","Name":"Syndactyly-polydactyly-ear lobe 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:3259"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/3259","Source__c":"C1861347; MONDO:0008517","Xref__c":"ORPHA:3259"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1861347","Source__c":"C1861347","Xref__c":"C1861347"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566091","Source__c":"MONDO:0008517","Xref__c":"C566091"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=348333","Source__c":"C1861347","Xref__c":"MEDGEN:348333"},{"URL__c":"https://www.omim.org/entry/186350","Source__c":"C1861347; MONDO:0008517; ORPHA:3259","Xref__c":"OMIM:186350"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008517","Source__c":"GARD:0005090","Xref__c":"MONDO:0008517"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:186350","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005767","HPO_Name__c":"1-2 toe complete cutaneous syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:186350","Feature__r":{"HPO_Description__c":"An abnormality of the lobule of pinna.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000363","HPO_Synonym__c":"Abnormal earlobe; Abnormal lobe of ear; Abnormality of auricular lobule; Abnormality of ear lobe; Abnormality of earlobe; Abnormality of lobulus auriculae","HPO_Name__c":"Abnormal earlobe morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:186350","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001853","HPO_Synonym__c":"Bifid distal phalanges of toes; Bifid terminal phalanx of toe; Notched outermost bones of toes","HPO_Name__c":"Bifid distal phalanx of toe","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:186350","Feature__r":{"HPO_Description__c":"Duplication of all or part of the first ray.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001841","HPO_Synonym__c":"Partial/complete duplication of the phalanges of the big toe; Polydactyly affecting the hallux; Preaxial hallucal polydactyly; Preaxial polydactyly of feet; Preaxial polydactyly of foot; Preaxial polydactyly of the feet; Preaxial polydactyly, feet","HPO_Name__c":"Preaxial foot polydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:186350","Feature__r":{"HPO_Description__c":"Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001837","HPO_Synonym__c":"Broad toe; Wide toe","HPO_Name__c":"Broad toe","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:186350","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["spel syndrome"," syndactyly-polydactyly-earlobe syndrome"]}