{"Name":"Scalp defects-postaxial polydactyly syndrome","DiseaseID__c":"GARD:0000241","id":241,"encodedName":"scalp-defects-postaxial-polydactyly-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Scalp defects-postaxial polydactyly syndrome","Xref_IDs__c":"C1867021; C536622; MEDGEN:401140; MONDO:0008403; OMIM:181250; ORPHA:1003","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":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008403","Disease_Description__c":"A rare syndrome with limb malformations as a major feature characterized by congenital scalp defects and postaxial polydactyly type A. There is a wide variability of expression, with some patients showing only one of the typical manifestations. There have been no further descriptions in the literature since 1985.","GARD_Name__c":"Scalp defects-postaxial polydactyly syndrome","GARD_Synonym__c":"congenital scalp defects associated with postaxial polydactyly; scalp defects and postaxial polydactyly","Curated_Disease_Description_Source__c":"MONDO:0008403","Curated_Disease_Description__c":"A rare syndrome with limb malformations as a major feature characterized by congenital scalp defects and postaxial polydactyly type A. There is a wide variability of expression, with some patients showing only one of the typical manifestations. There have been no further descriptions in the literature since 1985.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:1003","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008403","ORPHANET_ID__c":"ORPHA:1003","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de defectos del cuero cabelludo-polidactilia postaxial","Spanish_Description_Source__c":"ORPHA:1003","Spanish_Description__c":"Es un síndrome poco frecuente con malformaciones de las extremidades como rasgo principal, caracterizado por defectos congénitos del cuero cabelludo y polidactilia postaxial tipo A. La expresión es altamente variable, con algunos pacientes que muestran sólo una de las manifestaciones típicas. No ha habido más descripciones en la literatura desde 1985.","Spanish_Disease_Name__c":"síndrome de defectos del cuero cabelludo-polidactilia postaxial","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 syndrome with limb malformations as a major feature characterized by congenital scalp defects and postaxial polydactyly type A. There is a wide variability of expression, with some patients showing only one of the typical manifestations. There have been no further descriptions in the literature since 1985.","Curated_Disease_Description_Source__c":"MONDO:0008403","GARD_Synonym__c":"congenital scalp defects associated with postaxial polydactyly; scalp defects and postaxial polydactyly","Name":"Scalp defects-postaxial polydactyly 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":"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:1003"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=401140","Source__c":"C1867021","Xref__c":"MEDGEN:401140"},{"URL__c":"https://www.omim.org/entry/181250","Source__c":"C1867021; MONDO:0008403; ORPHA:1003","Xref__c":"OMIM:181250"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536622","Source__c":"MONDO:0008403","Xref__c":"C536622"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1867021","Source__c":"C1867021","Xref__c":"C1867021"},{"URL__c":"https://www.orpha.net/en/disease/detail/1003","Source__c":"C1867021; MONDO:0008403","Xref__c":"ORPHA:1003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008403","Source__c":"GARD:0000241","Xref__c":"MONDO:0008403"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1003","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002084","HPO_Synonym__c":"Bifid skull; Cranium bifidum","HPO_Name__c":"Encephalocele","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1003","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001362","HPO_Synonym__c":"Cranial defect; Skull defect","HPO_Name__c":"Calvarial skull defect","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1003","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Decreased number of hairs per unit area of skin of the scalp.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002209","HPO_Synonym__c":"Decreased number of scalp follicles; Hypotrichosis on scalp; Reduced amount of scalp hair; Reduced/lack of hair on scalp; Reduction in the number of scalp follicles; Scalp hypotrichosis; Sparse scalp hair; Thinning scalp hair","HPO_Name__c":"Sparse scalp hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1003","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Supernumerary digits located at the ulnar side of the hand with a complete extra finger and extra metacarpal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005696","HPO_Name__c":"Postaxial polydactyly type A","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology","Orthopedics","Pediatrics"],"Account":["Dermatology","Congenital limb malformation"]},"synonyms":["congenital scalp defects associated with postaxial polydactyly"," scalp defects and postaxial polydactyly"]}