{"Name":"Syndactyly type 8","DiseaseID__c":"GARD:0003559","id":3559,"encodedName":"syndactyly-type-8","IsDeleted":false,"Disease_Name_Full__c":"Syndactyly type 8","Xref_IDs__c":"715442006; C1839728; C564100; DOID:0111813; MEDGEN:333392; MONDO:0010669; OMIM:309630; ORPHA:2498","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"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":0,"Description_Source__c":"MONDO:0010669","Disease_Description__c":"A rare non-syndromic syndactyly characterized by unilateral or bilateral fusion of the 4th and 5th metacarpals with no other associated abnormalities. Patients present shortened 4th and 5th metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the 5th finger in parallel with the other fingers.","GARD_Name__c":"Syndactyly type 8","GARD_Synonym__c":"fgf16 non-syndromic syndactyly; fusion of metacarpal 4 and 5; fusion of metacarpals 4 and 5; metacarpal 4-5 fusion; metacarpal 4-5 fusion, x-linked recessive; metacarpals 4 and 5 fusion; non-syndromic syndactyly caused by mutation in fgf16; syndactyly of fingers type 8","Curated_Disease_Description_Source__c":"MONDO:0010669","Curated_Disease_Description__c":"A rare non-syndromic syndactyly characterized by unilateral or bilateral fusion of the 4th and 5th metacarpals with no other associated abnormalities. Patients present shortened 4th and 5th metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the 5th finger in parallel with the other fingers.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:2498","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010669","ORPHANET_ID__c":"ORPHA:2498","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Sindactilia tipo 8","Spanish_Description_Source__c":"ORPHA:2498","Spanish_Description__c":"Es una sindactilia no sindrómica poco frecuente caracterizada por la fusión unilateral o bilateral del cuarto y quinto metacarpianos sin otras anomalías asociadas. Los pacientes presentan los cuartos y quintos metacarpianos acortados con separación excesiva entre sus extremos distales, lo que resulta en una marcada desviación cubital del dedo meñique y en incapacidad para colocar el quinto dedo en paralelo con los otros dedos de la mano.","Spanish_Disease_Name__c":"sindactilia tipo 8","Spanish_GARD_Synonym__c":"fusión de los metacarpianos 4 y 5","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 unilateral or bilateral fusion of the 4th and 5th metacarpals with no other associated abnormalities. Patients present shortened 4th and 5th metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the 5th finger in parallel with the other fingers.","Curated_Disease_Description_Source__c":"MONDO:0010669","GARD_Synonym__c":"fgf16 non-syndromic syndactyly; fusion of metacarpal 4 and 5; fusion of metacarpals 4 and 5; metacarpal 4-5 fusion; metacarpal 4-5 fusion, x-linked recessive; metacarpals 4 and 5 fusion; non-syndromic syndactyly caused by mutation in fgf16; syndactyly of fingers type 8","Name":"Syndactyly type 8","estimateUsa":""}],"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"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1839728"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003559","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715442006","Source__c":"C1839728; MONDO:0010669","Xref__c":"715442006"},{"URL__c":"https://www.omim.org/entry/309630","Source__c":"C1839728; MONDO:0010669; ORPHA:2498","Xref__c":"OMIM:309630"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111813","Source__c":"MONDO:0010669","Xref__c":"DOID:0111813"},{"URL__c":"https://www.orpha.net/en/disease/detail/2498","Source__c":"C1839728; MONDO:0010669; ORPHA:2498","Xref__c":"ORPHA:2498"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564100","Source__c":"MONDO:0010669","Xref__c":"C564100"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1839728","Source__c":"C1839728","Xref__c":"C1839728"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=333392","Source__c":"C1839728","Xref__c":"MEDGEN:333392"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010669","Source__c":"GARD:0003559","Xref__c":"MONDO:0010669"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FGF16","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant","X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:309630","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005709","HPO_Synonym__c":"Complete cutaneous syndactyly of second and third toes; Cutaneous 2,3 toe syndactyly; Cutaneous syndactyly of second and third toes; Webbed skin of 2nd-3rd toes","HPO_Name__c":"2-3 toe cutaneous syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:309630","HPO_Frequency__c":"Frequent (30-79%)","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":"OMIM:309630","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Short fifth metacarpal bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010047","HPO_Synonym__c":"Fifth metacarpal hypoplasia; Hypoplastic 5th metacarpal; Short fifth metacarpal; Short fifth metacarpals; Shortened 5th long bone of hand","HPO_Name__c":"Short 5th metacarpal","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:309630","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005867","HPO_Synonym__c":"Fused 4th-5th long bones of hand; Fused 4th-5th metacarpals; Fused fourth and fifth metacarpals; Ring finger and little finger metacarpal synostosis; Synostosis of the fourth and fifth metacarpal bones","HPO_Name__c":"4-5 metacarpal synostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics"],"Account":["Congenital limb malformation"]},"synonyms":["fgf16 non-syndromic syndactyly"," fusion of metacarpal 4 and 5"," fusion of metacarpals 4 and 5"," metacarpal 4-5 fusion"," metacarpal 4-5 fusion, x-linked recessive"," metacarpals 4 and 5 fusion"," non-syndromic syndactyly caused by mutation in fgf16"," syndactyly of fingers type 8"]}