{"Name":"Finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome","DiseaseID__c":"GARD:0021584","id":21584,"encodedName":"finger-hyperphalangy-toe-anomalies-severe-pectus-excavatum-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome","Xref_IDs__c":"C5190599; MEDGEN:1673147; MONDO:0018249; ORPHA:369979","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":4,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:369979","Disease_Description__c":"Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome is a rare, genetic, congenital limb malformation syndrome characterized by bilateral short broad thumbs, short deviated index fingers, clinodactyly of the fifth fingers, broad, valgus-deviated halluces and laterally-deviated, overlapping second toe, associated with severe pectus excavatum and craniofacial dysmorphism (including brachycephaly, low anterior hairline, flat supraorbital ridges, telecanthus, upslanting palpebral fissures, maxillary hypoplasia, posteriorly rotated ears, microsomia and micrognathia). Radiological findings include thumb, index, and middle finger hyperphalangy, with severe delta phalanxes in affected fingers and halluces.","GARD_Name__c":"Finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome","GARD_Synonym__c":"finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome; finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome","Curated_Disease_Description_Source__c":"ORPHA:369979","Curated_Disease_Description__c":"A rare, genetic, congenital limb malformation syndrome characterized by bilateral short broad thumbs, short deviated index fingers, clinodactyly of the fifth fingers, broad, valgus-deviated halluces and laterally-deviated, overlapping second toe, associated with severe pectus excavatum and craniofacial dysmorphism (including brachycephaly, low anterior hairline, flat supraorbital ridges, telecanthus, upslanting palpebral fissures, maxillary hypoplasia, posteriorly rotated ears, microsomia and micrognathia). Radiological findings include thumb, index, and middle finger hyperphalangy, with severe delta phalanxes in affected fingers and halluces.","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:369979","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018249","ORPHANET_ID__c":"ORPHA:369979","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de hiperfalangia de los dedos-anomalías de los pies-pectus excavatum grave","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de hiperfalangia de los dedos-anomalías de los pies-pectus excavatum grave","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 bilateral short broad thumbs, short deviated index fingers, clinodactyly of the fifth fingers, broad, valgus-deviated halluces and laterally-deviated, overlapping second toe, associated with severe pectus excavatum and craniofacial dysmorphism (including brachycephaly, low anterior hairline, flat supraorbital ridges, telecanthus, upslanting palpebral fissures, maxillary hypoplasia, posteriorly rotated ears, microsomia and micrognathia). Radiological findings include thumb, index, and middle finger hyperphalangy, with severe delta phalanxes in affected fingers and halluces.","Curated_Disease_Description_Source__c":"ORPHA:369979","GARD_Synonym__c":"finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome; finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome","Name":"Finger hyperphalangy - toe anomalies - severe pectus excavatum 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:369979"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:369979"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5190599","Source__c":"C5190599","Xref__c":"C5190599"},{"URL__c":"https://www.orpha.net/en/disease/detail/369979","Source__c":"C5190599; MONDO:0018249; ORPHA:369979","Xref__c":"ORPHA:369979"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1673147","Source__c":"C5190599","Xref__c":"MEDGEN:1673147"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=782758009","Source__c":"C5190599","Xref__c":"782758009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018249","Source__c":"GARD:0021584","Xref__c":"MONDO:0018249"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome"," finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome"]}