{"Name":"Polydactyly-myopia syndrome","DiseaseID__c":"GARD:0004413","id":4413,"encodedName":"polydactyly-myopia-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Polydactyly-myopia syndrome","Xref_IDs__c":"82639001; C1868117; C536331; MEDGEN:357424; MONDO:0008268; OMIM:174310; ORPHA:2917","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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008268","Disease_Description__c":"Polydactyly-myopia syndrome is an exceedingly rare autosomal dominant developmental anomaly reported in 1986 in nine individuals among four generations of the same family. The syndrome is characterized clinically by four-limb postaxial polydactyly and progressive myopia. There have been no further descriptions in the literature since 1986.","GARD_Name__c":"Polydactyly-myopia syndrome","GARD_Synonym__c":"czeizel brooser syndrome; czeizel-brooser syndrome; polydactyly myopia syndrome; postaxial polydactyly with progressive myopia; postaxial polydactyly-progressive myopia syndrome","Curated_Disease_Description_Source__c":"GARD:0004413","Curated_Disease_Description__c":"Polydactyly myopia syndrome is characterized by postaxial polydactyly (the presence of an extra digit on the side of the hand or foot by the pinky or small toe) and progressive myopia. This condition was originally described in 9 persons in 4 generations of a family in Hungary in 1986. Family history suggests autosomal dominant inheritance.","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:2917","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008268","ORPHANET_ID__c":"ORPHA:2917","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de polidactilia-miopía","Spanish_Description_Source__c":"ORPHA:2917","Spanish_Description__c":"El síndrome de polidactilia-miopía es una anomalía del desarrollo autosómica dominante extremadamente rara que se describió en 1986 en nueve individuos de cuatro generaciones de la misma familia. El síndrome se caracteriza clínicamente por polidactilia postaxial de cuatro extremidades y miopía progresiva. No ha habido más descripciones en la literatura desde 1986.","Spanish_Disease_Name__c":"síndrome de polidactilia-miopía","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":"Polydactyly myopia syndrome is characterized by postaxial polydactyly (the presence of an extra digit on the side of the hand or foot by the pinky or small toe) and progressive myopia. This condition was originally described in 9 persons in 4 generations of a family in Hungary in 1986. Family history suggests autosomal dominant inheritance.","Curated_Disease_Description_Source__c":"GARD:0004413","GARD_Synonym__c":"czeizel brooser syndrome; czeizel-brooser syndrome; polydactyly myopia syndrome; postaxial polydactyly with progressive myopia; postaxial polydactyly-progressive myopia syndrome","Name":"Polydactyly-myopia 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":"Infancy","Provided_By__c":"ORPHA:2917"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2917"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=357424","Source__c":"C1868117","Xref__c":"MEDGEN:357424"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=82639001","Source__c":"MONDO:0008268","Xref__c":"82639001"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1868117","Source__c":"C1868117","Xref__c":"C1868117"},{"URL__c":"https://www.omim.org/entry/174310","Source__c":"C1868117; MONDO:0008268; ORPHA:2917","Xref__c":"OMIM:174310"},{"URL__c":"https://www.orpha.net/en/disease/detail/2917","Source__c":"C1868117; MONDO:0008268; ORPHA:2917","Xref__c":"ORPHA:2917"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536331","Source__c":"MONDO:0008268","Xref__c":"C536331"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=733087007","Source__c":"C1868117","Xref__c":"733087007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008268","Source__c":"GARD:0004413","Xref__c":"MONDO:0008268"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2917","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000545","HPO_Synonym__c":"Close sighted; Near sighted; Near sightedness; Nearsightedness","HPO_Name__c":"Myopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2917","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A hernia which occurs just below the inguinal ligament, where abdominal contents pass through a naturally occurring weakness called the femoral canal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100541","HPO_Synonym__c":"Crural hernia","HPO_Name__c":"Femoral hernia","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2917","HPO_Frequency__c":"Very frequent (80-99%)","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:2917","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Protrusion of the contents of the abdominal cavity through the inguinal canal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000023","HPO_Name__c":"Inguinal hernia","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2917","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000028","HPO_Synonym__c":"Cryptorchism; Undescended testes; Undescended testis","HPO_Name__c":"Cryptorchidism","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["czeizel brooser syndrome"," czeizel-brooser syndrome"," polydactyly myopia syndrome"," postaxial polydactyly with progressive myopia"," postaxial polydactyly-progressive myopia syndrome"]}