{"Name":"Syndactyly type 5","DiseaseID__c":"GARD:0005089","id":5089,"encodedName":"syndactyly-type-5","IsDeleted":false,"Disease_Name_Full__c":"Syndactyly type 5","Xref_IDs__c":"719159004; C1861348; C538155; DOID:0111819; MEDGEN:350010; MONDO:0008516; OMIM:186300; ORPHA:93406","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":"MONDO:0008516","Disease_Description__c":"A rare non-syndromic syndactyly characterized by soft tissue syndactyly of the 3rd and 4th fingers and the 2nd and 3rd toes associated with metacarpal and metatarsal fusion of the 4th and 5th digits. Shortening of fused metacarpals, ulnar deviation of fingers, interdigital cleft, camptodactyly, short distal phalanges, and absent distal interphalangeal creases have also been reported.","GARD_Name__c":"Syndactyly type 5","GARD_Synonym__c":"postaxial syndactyly with metacarpal synostosis; sd5; syndactyly with associated metacarpal and metatarsal fusion; syndactyly with metacarpal and metatarsal fusion; syndactyly, type v","Curated_Disease_Description_Source__c":"MONDO:0008516","Curated_Disease_Description__c":"A rare non-syndromic syndactyly characterized by soft tissue syndactyly of the 3rd and 4th fingers and the 2nd and 3rd toes associated with metacarpal and metatarsal fusion of the 4th and 5th digits. Shortening of fused metacarpals, ulnar deviation of fingers, interdigital cleft, camptodactyly, short distal phalanges, and absent distal interphalangeal creases have also been reported.","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:93406","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008516","ORPHANET_ID__c":"ORPHA:93406","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Sindactilia tipo 5","Spanish_Description_Source__c":"ORPHA:93406","Spanish_Description__c":"Es una sindactilia no sindrómica poco frecuente caracterizada por sindactilia de tejidos blandos del tercer y cuarto dedos de la mano y del segundo y tercer dedos del pie asociada a fusión metacarpiana y metatarsiana del cuarto y quinto dedos. También se ha descrito acortamiento de los metacarpianos fusionados, desviación cubital de los dedos de la mano, hendidura interdigital, camptodactilia, falanges distales cortas y ausencia de pliegues interfalángicos distales.","Spanish_Disease_Name__c":"sindactilia tipo 5","Spanish_GARD_Synonym__c":"sd5; sindactilia postaxial con sinostosis metacarpiana","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 non-syndromic syndactyly characterized by soft tissue syndactyly of the 3rd and 4th fingers and the 2nd and 3rd toes associated with metacarpal and metatarsal fusion of the 4th and 5th digits. Shortening of fused metacarpals, ulnar deviation of fingers, interdigital cleft, camptodactyly, short distal phalanges, and absent distal interphalangeal creases have also been reported.","Curated_Disease_Description_Source__c":"MONDO:0008516","GARD_Synonym__c":"postaxial syndactyly with metacarpal synostosis; sd5; syndactyly with associated metacarpal and metatarsal fusion; syndactyly with metacarpal and metatarsal fusion; syndactyly, type v","Name":"Syndactyly type 5","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:93406"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:93406"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1861348"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005089","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111819","Source__c":"MONDO:0008516","Xref__c":"DOID:0111819"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=350010","Source__c":"C1861348","Xref__c":"MEDGEN:350010"},{"URL__c":"https://www.orpha.net/en/disease/detail/93406","Source__c":"C1861348; MONDO:0008516; ORPHA:93406","Xref__c":"ORPHA:93406"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538155","Source__c":"MONDO:0008516","Xref__c":"C538155"},{"URL__c":"https://www.omim.org/entry/186300","Source__c":"C1861348; MONDO:0008516; ORPHA:93406","Xref__c":"OMIM:186300"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1861348","Source__c":"C1861348","Xref__c":"C1861348"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719159004","Source__c":"C1861348; MONDO:0008516","Xref__c":"719159004"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008516","Source__c":"GARD:0005089","Xref__c":"MONDO:0008516"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HOXD13","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:93406","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004209","HPO_Synonym__c":"Bilateral fifth digit clinodactyly; Bilateral fifth finger clinodactyly; Clinodactyly of fifth digit; Clinodactyly of the little finger; Fifth finger clinodactyly; Permanent curving of the pinkie finger","HPO_Name__c":"Clinodactyly of the 5th finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93406","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001440","HPO_Synonym__c":"Fusion of metatarsals; Fusion of the long bones of the feet; Synostosis involving metatarsal bones","HPO_Name__c":"Metatarsal synostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93406","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009882","HPO_Synonym__c":"Brachytelophalangy; Distal phalangeal hypoplasia; Hypoplasia of the distal phalanges; Hypoplasia of the distal phalanges of the hand; Hypoplastic distal phalanges; Hypoplastic terminal phalanges; Short distal phalanges; Short outermost finger bone; Terminal phalangeal hypoplasia of hand","HPO_Name__c":"Short distal phalanx of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93406","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Syndactyly with fusion of toes two and three.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004691","HPO_Synonym__c":"2-3 syndactyly of feet; 2-3 toe soft tissue syndactyly; 2-3 toes syndactyly; partial or complete syndactyly 2nd-3rd toes; Syndactyly of second and third toes; Toe syndactyly, 2-3; Webbed 2nd and 3rd toes","HPO_Name__c":"2-3 toe syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93406","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100490","HPO_Synonym__c":"Camptodactyly of hands; Camptodactyly of proximal interphalangeal joint; Contractures of the proximal interphalangeal joints of the fingers; Flexion contractures of proximal interphalangeal joints; Permanent flexion of the finger; Proximal interphalangeal finger joint contractures","HPO_Name__c":"Camptodactyly of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93406","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Fusion of the third (middle) and fourth (ring) finger, involving soft parts and including fusion of individual finger bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006097","HPO_Synonym__c":"Partial or complete syndactyly 3rd-4th fingers; Webbed 3rd-4th finger; Webbed 3rd-4th fingers","HPO_Name__c":"3-4 finger osseus syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93406","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009465","HPO_Synonym__c":"Finger bends toward pinky; Ulnar Drift","HPO_Name__c":"Ulnar deviation of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93406","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Fusion involving two or more metacarpal bones (A synostosis of the first metacarpal and the proximal phalanx of the thumb can also be observed, note that the first metacarpal bone corresponds to a proximal phalanx).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009701","HPO_Synonym__c":"Fused long bones of hand; Synostosis involving metacarpal bones; Synostosis involving the metacarpal bones","HPO_Name__c":"Metacarpal synostosis","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":["postaxial syndactyly with metacarpal synostosis"," sd5"," syndactyly with associated metacarpal and metatarsal fusion"," syndactyly with metacarpal and metatarsal fusion"," syndactyly, type v"]}