{"Name":"Dandy-Walker malformation-postaxial polydactyly syndrome","DiseaseID__c":"GARD:0001669","id":1669,"encodedName":"dandy-walker-malformation-postaxial-polydactyly-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Dandy-Walker malformation-postaxial polydactyly syndrome","Xref_IDs__c":"733094005; C1857351; C535771; MEDGEN:341751; MONDO:0009075; OMIM:220220; ORPHA:1566","USA_Estimate__c":"1,000","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":"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":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009075","Disease_Description__c":"A syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals.","GARD_Name__c":"Dandy-Walker malformation-postaxial polydactyly syndrome","GARD_Synonym__c":"dandy-walker malformation with postaxial polydactyly syndrome; dwm with postaxial polydactyly; pierquin syndrome","Curated_Disease_Description_Source__c":"MONDO:0009075","Curated_Disease_Description__c":"A syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:1566","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009075","ORPHANET_ID__c":"ORPHA:1566","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de malformación de dandy-walker-polidactilia postaxial","Spanish_Description_Source__c":"ORPHA:1566","Spanish_Description__c":"Es una malformación congénita poco frecuente de las extremidades caracterizada por la malformación de Dandy-Walker y polidactilia postaxial. La malformación de Dandy-Walker (caracterizada por quiste de fosa posterior que comunica con el cuarto ventrículo, ausencia parcial o completa del vermis cerebeloso e hidrocefalia facultativa) tiene una expresión variable. La polidactilia postaxial incluye polidactilia postaxial tetramélica de manos y pies con posible agrandamiento del quinto metacarpiano y metatarsiano, así como del quinto metacarpiano bífido. No ha habido más descripciones en la literatura desde 1999.","Spanish_Disease_Name__c":"síndrome de malformación de dandy-walker-polidactilia postaxial","Spanish_GARD_Synonym__c":"dwm con polidactilia postaxial; síndrome de pierquin","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 syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals.","Curated_Disease_Description_Source__c":"MONDO:0009075","GARD_Synonym__c":"dandy-walker malformation with postaxial polydactyly syndrome; dwm with postaxial polydactyly; pierquin syndrome","Name":"Dandy-Walker malformation-postaxial polydactyly syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Dandy-Walker Alliance, Inc.","Website__c":"https://dandy-walker.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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological 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":"Antenatal","Provided_By__c":"ORPHA:1566"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1566"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/1566","Source__c":"C1857351; MONDO:0009075; ORPHA:1566","Xref__c":"ORPHA:1566"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535771","Source__c":"MONDO:0009075","Xref__c":"C535771"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1857351","Source__c":"C1857351","Xref__c":"C1857351"},{"URL__c":"https://www.omim.org/entry/220220","Source__c":"C1857351; MONDO:0009075; ORPHA:1566","Xref__c":"OMIM:220220"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=733094005","Source__c":"C1857351; MONDO:0009075","Xref__c":"733094005"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=341751","Source__c":"C1857351","Xref__c":"MEDGEN:341751"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009075","Source__c":"GARD:0001669","Xref__c":"MONDO:0009075"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1566","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:1566","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001305","HPO_Synonym__c":"Dandy-walker anomaly; Dandy-Walker cyst","HPO_Name__c":"Dandy-Walker malformation","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Orthopedics","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["dandy-walker malformation with postaxial polydactyly syndrome"," dwm with postaxial polydactyly"," pierquin syndrome"]}