{"Name":"Syndactyly type 4","DiseaseID__c":"GARD:0004434","id":4434,"encodedName":"syndactyly-type-4","IsDeleted":false,"Disease_Name_Full__c":"Syndactyly type 4","Xref_IDs__c":"719158007; C1861355; C566092; DOID:0111818; MEDGEN:350013; MONDO:0008515; OMIM:186200; ORPHA:93405","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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008515","Disease_Description__c":"A rare non-syndromic syndactyly characterized by complete bilateral cutaneous fusion of all fingers, frequently associated with polydactyly (usually involving six digits and six metacarpals). Phalanges may fuse as a conglomerate mass of bones. Feet are occasionally affected.","GARD_Name__c":"Syndactyly type 4","GARD_Synonym__c":"haas type syndactyly; lmbr1 non-syndromic syndactyly; non-syndromic syndactyly caused by mutation in lmbr1; polysyndactyly type haas; polysyndactyly, haas type; syndactyly, type iv","Curated_Disease_Description_Source__c":"MONDO:0008515","Curated_Disease_Description__c":"A rare non-syndromic syndactyly characterized by complete bilateral cutaneous fusion of all fingers, frequently associated with polydactyly (usually involving six digits and six metacarpals). Phalanges may fuse as a conglomerate mass of bones. Feet are occasionally affected.","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:93405","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008515","ORPHANET_ID__c":"ORPHA:93405","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Sindactilia tipo 4","Spanish_Description_Source__c":"ORPHA:93405","Spanish_Description__c":"Es una sindactilia no sindrómica poco frecuente caracterizada por una fusión cutánea bilateral completa de todos los dedos, frecuentemente asociada con polidactilia (por lo general, seis dedos y seis metacarpianos). Las falanges pueden fusionarse como una masa conglomerada de huesos. En ocasiones, los pies también se ven afectados.","Spanish_Disease_Name__c":"sindactilia tipo 4","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 non-syndromic syndactyly characterized by complete bilateral cutaneous fusion of all fingers, frequently associated with polydactyly (usually involving six digits and six metacarpals). Phalanges may fuse as a conglomerate mass of bones. Feet are occasionally affected.","Curated_Disease_Description_Source__c":"MONDO:0008515","GARD_Synonym__c":"haas type syndactyly; lmbr1 non-syndromic syndactyly; non-syndromic syndactyly caused by mutation in lmbr1; polysyndactyly type haas; polysyndactyly, haas type; syndactyly, type iv","Name":"Syndactyly type 4","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:93405"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:93405"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1861355"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004434","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=350013","Source__c":"C1861355","Xref__c":"MEDGEN:350013"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566092","Source__c":"MONDO:0008515","Xref__c":"C566092"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719158007","Source__c":"C1861355; MONDO:0008515","Xref__c":"719158007"},{"URL__c":"https://www.omim.org/entry/186200","Source__c":"C1861355; MONDO:0008515; ORPHA:93405","Xref__c":"OMIM:186200"},{"URL__c":"https://www.orpha.net/en/disease/detail/93405","Source__c":"C1861355; MONDO:0008515; ORPHA:93405","Xref__c":"ORPHA:93405"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1861355","Source__c":"C1861355","Xref__c":"C1861355"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111818","Source__c":"MONDO:0008515","Xref__c":"DOID:0111818"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008515","Source__c":"GARD:0004434","Xref__c":"MONDO:0008515"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"LMBR1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:93405","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction in the freedom of movement of one or more joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001376","HPO_Synonym__c":"Decreased joint mobility; Decreased mobility of joints; Limitation of joint mobility; Limited joint mobility; Limited joint motion","HPO_Name__c":"Limitation of joint mobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93405","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A kind of polydactyly characterized by the presence of a supernumerary toe or toes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001829","HPO_Synonym__c":"Duplication of bones of the toes; Polydactyly of feet; Polydactyly of the foot","HPO_Name__c":"Foot polydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93405","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001501","HPO_Synonym__c":"6 long bones of hand","HPO_Name__c":"6 metacarpals","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93405","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment (reduced size) of the tibia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005736","HPO_Synonym__c":"Hypoplasia of the tibia; Hypoplastic tibia; Short shinbone; Short skankbone; Short tibiae; Shortening of the shankbone; Shortening of the shinbone; Shortening of the tibia","HPO_Name__c":"Short tibia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93405","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001161","HPO_Synonym__c":"Extra finger; Finger polydactyly; Polydactyly of the hand; Supernumerary finger","HPO_Name__c":"Hand polydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93405","HPO_Frequency__c":"Very frequent (80-99%)","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:93405","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001199","HPO_Synonym__c":"Accessory phalanx of the thumb; Digitalized thumb; Finger-like thumb; Triphalangeal thumbs; Triphalangy of thumb","HPO_Name__c":"Triphalangeal thumb","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93405","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A soft tissue continuity in the anteroposterior axis between the thumb to the little finger that extends distally to at least the level of the proximal interphalangeal joints (complete syndactyly of all fingers of the hand).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010708","HPO_Synonym__c":"Webbed 1-5 fingers; Webbed 1st-5th fingers","HPO_Name__c":"1-5 finger cutaneous syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93405","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Webbing or fusion of the 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 toes in a proximo-distal axis are referred to as \\\"Symphalangism\\\".","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001770","HPO_Synonym__c":"Foot syndactyly; Fused toes; Syndactyly of feet; Syndactyly of toes; Webbed toes","HPO_Name__c":"Toe syndactyly","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":["haas type syndactyly"," lmbr1 non-syndromic syndactyly"," non-syndromic syndactyly caused by mutation in lmbr1"," polysyndactyly type haas"," polysyndactyly, haas type"," syndactyly, type iv"]}