{"Name":"Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia","DiseaseID__c":"GARD:0001064","id":1064,"encodedName":"camptodactyly-with-fibrous-tissue-hyperplasia-and-skeletal-dysplasia","IsDeleted":false,"Disease_Name_Full__c":"Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia","Xref_IDs__c":"C537974; C5848327; MEDGEN:1848853; MONDO:0008900; OMIM:211930; ORPHA:1321","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008900","Disease_Description__c":"An extremely rare chondrodysplastic malformation syndrome characterized by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly, and scoliosis. Additional reported manifestations include a mild intellectual disability and a mild facial dysmorphism including a broad nose and flaring nostrils. There have been no further descriptions in the literature since 1972.","GARD_Name__c":"Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia","GARD_Synonym__c":"camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome; camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome; goodman camptodactyly","Curated_Disease_Description_Source__c":"MONDO:0008900","Curated_Disease_Description__c":"An extremely rare chondrodysplastic malformation syndrome characterized by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly, and scoliosis. Additional reported manifestations include a mild intellectual disability and a mild facial dysmorphism including a broad nose and flaring nostrils. There have been no further descriptions in the literature since 1972.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:1321","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008900","ORPHANET_ID__c":"ORPHA:1321","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de camptodactilia-hiperplasia del tejido fibroso-anomalías esqueléticas","Spanish_Description_Source__c":"ORPHA:1321","Spanish_Description__c":"Es un síndrome de malformación condrodisplásica extremadamente infrecuente caracterizado por la combinación de aracnodactilia, que se hace evidente alrededor de los 10 años de edad, camptodactilia y escoliosis. Otras manifestaciones descritas son una leve discapacidad intelectual y un leve dismorfia facial, incluyendo nariz amplia con fosas nasales ensanchadas. No ha habido más descripciones en la literatura desde 1972.","Spanish_Disease_Name__c":"síndrome de camptodactilia-hiperplasia del tejido fibroso-anomalías esqueléticas","Spanish_GARD_Synonym__c":"camptodactilia de goodman","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":"An extremely rare chondrodysplastic malformation syndrome characterized by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly, and scoliosis. Additional reported manifestations include a mild intellectual disability and a mild facial dysmorphism including a broad nose and flaring nostrils. There have been no further descriptions in the literature since 1972.","Curated_Disease_Description_Source__c":"MONDO:0008900","GARD_Synonym__c":"camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome; camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome; goodman camptodactyly","Name":"Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia","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":"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":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1321"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/211930","Source__c":"C5848327; MONDO:0008900; ORPHA:1321","Xref__c":"OMIM:211930"},{"URL__c":"https://www.orpha.net/en/disease/detail/1321","Source__c":"C5848327; MONDO:0008900; ORPHA:1321","Xref__c":"ORPHA:1321"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537974","Source__c":"MONDO:0008900","Xref__c":"C537974"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1848853","Source__c":"C5848327","Xref__c":"MEDGEN:1848853"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=720600004","Source__c":"C5848327","Xref__c":"720600004"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008900","Source__c":"GARD:0001064","Xref__c":"MONDO:0008900"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5848327","Source__c":"C5848327","Xref__c":"C5848327"}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Orthopedics","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome"," camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome"," goodman camptodactyly"]}