{"Name":"Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome","DiseaseID__c":"GARD:0017551","id":17551,"encodedName":"syndactyly-camptodactyly-and-clinodactyly-of-fifth-fingers-bifid-toes-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome","Xref_IDs__c":"C3554611; MEDGEN:767525; MONDO:0014069; OMIM:615170; ORPHA:357332","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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:357332","Disease_Description__c":"A rare, genetic, congenital limb malformation syndrome characterized by a unique combination of bilateral, symmetrical camptodactyly and clinodactyly of 5th fingers, mesoaxial camptodactyly of toes, and ulnar deviation of 3rd fingers. Additional variable manifestations include bifid toes and severe syndactyly, or synpolydactyly, involving all digits of hands and feet.","GARD_Name__c":"Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome","GARD_Synonym__c":"camptodactyly, clinodactyly, syndactyly, and bifid toe syndrome; synactyly-camptodactyly and clinodactyly of fifth fingers-bifid halluces syndrome; synactyly, camptodactyly and clinodactyly of fifth fingers, bifid halluces syndrome; syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome; wahab syndrome","Curated_Disease_Description_Source__c":"ORPHA:357332","Curated_Disease_Description__c":"A rare, genetic, congenital limb malformation syndrome characterized by a unique combination of bilateral, symmetrical camptodactyly and clinodactyly of 5th fingers, mesoaxial camptodactyly of toes, and ulnar deviation of 3rd fingers. Additional variable manifestations include bifid toes and severe syndactyly, or synpolydactyly, involving all digits of hands and feet.","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:357332","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014069","ORPHANET_ID__c":"ORPHA:357332","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de sindactilia-camptodactilia y clinodactilia del quinto dedo de la mano-dedos de los pies bífidos","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de sindactilia-camptodactilia y clinodactilia del quinto dedo de la mano-dedos de los pies bífidos","Spanish_GARD_Synonym__c":"síndrome de wahab","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 a unique combination of bilateral, symmetrical camptodactyly and clinodactyly of 5th fingers, mesoaxial camptodactyly of toes, and ulnar deviation of 3rd fingers. Additional variable manifestations include bifid toes and severe syndactyly, or synpolydactyly, involving all digits of hands and feet.","Curated_Disease_Description_Source__c":"ORPHA:357332","GARD_Synonym__c":"camptodactyly, clinodactyly, syndactyly, and bifid toe syndrome; synactyly-camptodactyly and clinodactyly of fifth fingers-bifid halluces syndrome; synactyly, camptodactyly and clinodactyly of fifth fingers, bifid halluces syndrome; syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome; wahab syndrome","Name":"Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes 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:357332"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:357332"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/357332","Source__c":"C3554611; MONDO:0014069; ORPHA:357332","Xref__c":"ORPHA:357332"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3554611","Source__c":"C3554611","Xref__c":"C3554611"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=767525","Source__c":"C3554611","Xref__c":"MEDGEN:767525"},{"URL__c":"https://www.omim.org/entry/615170","Source__c":"C3554611; MONDO:0014069; ORPHA:357332","Xref__c":"OMIM:615170"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014069","Source__c":"GARD:0017551","Xref__c":"MONDO:0014069"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=783553008","Source__c":"C3554611","Xref__c":"783553008"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:615170","Feature__r":{"HPO_Description__c":"An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030084","HPO_Synonym__c":"Permanent curving of the finger","HPO_Name__c":"Clinodactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615170","Feature__r":{"HPO_Description__c":"Hypoplasia (congenital reduction in size) of the thumb.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009778","HPO_Synonym__c":"Hypoplastic thumb; Hypoplastic thumbs; Hypoplastic/small thumb; Short thumb; Short thumbs; Small thumbs; Thumb brachydactyly; Thumb hypoplasia","HPO_Name__c":"Short thumb","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615170","Feature__r":{"HPO_Description__c":"Short palm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004279","HPO_Synonym__c":"Short palm","HPO_Name__c":"Short palm","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615170","Feature__r":{"HPO_Description__c":"In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001181","HPO_Synonym__c":"Adducted thumbs; Inward turned thumb; Thumb-in-palm deformity; Thumb-in-palm pattern","HPO_Name__c":"Adducted thumb","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615170","Feature__r":{"HPO_Description__c":"The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012385","HPO_Synonym__c":"Permanent flexion of the finger or toe","HPO_Name__c":"Camptodactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615170","Feature__r":{"HPO_Description__c":"A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001773","HPO_Synonym__c":"Hypoplastic feet; Short feet; Short foot; Small feet","HPO_Name__c":"Short foot","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615170","Feature__r":{"HPO_Description__c":"A reduction of joint mobility resulting from changes involving the articular surfaces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031013","HPO_Name__c":"Ankylosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615170","Feature__r":{"HPO_Description__c":"Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as \\\"bony\\\" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as \\\"symphalangism\\\".","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001159","HPO_Synonym__c":"Webbed fingers or toes","HPO_Name__c":"Syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615170","Feature__r":{"HPO_Description__c":"Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010049","HPO_Synonym__c":"Brachymetacarpalia; Hypoplastic metacarpal; Metacarpal hypoplasia; Short metacarpals; Shortened long bone of hand; Shortened long bones of hand; Shortened metacarpals; Shortening of metacarpals","HPO_Name__c":"Short metacarpal","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["camptodactyly, clinodactyly, syndactyly, and bifid toe syndrome"," synactyly-camptodactyly and clinodactyly of fifth fingers-bifid halluces syndrome"," synactyly, camptodactyly and clinodactyly of fifth fingers, bifid halluces syndrome"," syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome"," wahab syndrome"]}