{"Name":"Tibia, hypoplasia or aplasia of, with polydactyly","DiseaseID__c":"GARD:0008309","id":8309,"encodedName":"tibia-hypoplasia-or-aplasia-of-with-polydactyly","IsDeleted":false,"Disease_Name_Full__c":"Tibia, hypoplasia or aplasia of, with polydactyly","Xref_IDs__c":"716741008; C1861098; C535564; C566046; DOID:0111564; MEDGEN:348786; MONDO:0008572; OMIM:188740; ORPHA:988","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008572","Disease_Description__c":"Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones.","GARD_Name__c":"Tibia, hypoplasia or aplasia of, with polydactyly","GARD_Synonym__c":"absent tibia-polydactyly syndrome; hypoplastic or aplastic tibia with polydactyly; hypoplastic tibiae-postaxial polydactyly syndrome; mesomelic dysplasia, werner type; polydactyly with absent tibia; thyp; tibial hemimelia-polydactyly-triphalangeal thumbs with fibular dimelia; tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome; werner mesomelic spectrum; werner mesomelic syndrome","Curated_Disease_Description_Source__c":"MONDO:0008572","Curated_Disease_Description__c":"Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:988","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008572","ORPHANET_ID__c":"ORPHA:988","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de hemimelia tibial-polisindactilia-pulgar trifalángico","Spanish_Description_Source__c":"ORPHA:988","Spanish_Description__c":"El síndrome de hemimelia tibial - polisindactilia - pulgar trifalángico es un síndrome genético de disostosis poco frecuente, con una marcada variación inter- e intrafamiliar, caracterizada típicamente por pulgares trifalángicos, polisindactilia en manos y/o pies, y/o tibia ausente/hipoplásica (asociada en algunos casos a la duplicación de las fíbulas), aunque también se han descrito pulgares trifalángicos aislados. A menudo, se acompaña de una talla baja notable y otras características adicionales que pueden incluir sinostosis radiocubital y oligodactilia en las manos, así como huesos carpianos y metatarsianos anómalos.","Spanish_Disease_Name__c":"síndrome de hemimelia tibial-polisindactilia-pulgar trifalángico","Spanish_GARD_Synonym__c":"espectro mesomélico de werner; síndrome de tibia ausente-polidactilia","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":"Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones.","Curated_Disease_Description_Source__c":"MONDO:0008572","GARD_Synonym__c":"absent tibia-polydactyly syndrome; hypoplastic or aplastic tibia with polydactyly; hypoplastic tibiae-postaxial polydactyly syndrome; mesomelic dysplasia, werner type; polydactyly with absent tibia; thyp; tibial hemimelia-polydactyly-triphalangeal thumbs with fibular dimelia; tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome; werner mesomelic spectrum; werner mesomelic syndrome","Name":"Tibia, hypoplasia or aplasia of, with polydactyly","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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:988"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:988"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0008309","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/988","Source__c":"C1861098; MONDO:0008572","Xref__c":"ORPHA:988"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111564","Source__c":"MONDO:0008572","Xref__c":"DOID:0111564"},{"URL__c":"https://www.omim.org/entry/188740","Source__c":"C1861098; MONDO:0008572","Xref__c":"OMIM:188740"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=348786","Source__c":"C1861098","Xref__c":"MEDGEN:348786"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1861098","Source__c":"C1861098","Xref__c":"C1861098"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566046","Source__c":"MONDO:0008572","Xref__c":"C566046"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535564","Source__c":"MONDO:0008572","Xref__c":"C535564"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=716741008","Source__c":"MONDO:0008572","Xref__c":"716741008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008572","Source__c":"GARD:0008309","Xref__c":"MONDO:0008572"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"LMBR1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SHH","GHR_URL__c":"https://medlineplus.gov/genetics/gene/shh","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:988","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005048","HPO_Synonym__c":"Fusion of wrist bones","HPO_Name__c":"Synostosis of carpal bones","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:988","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:988","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of the patella.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006443","HPO_Synonym__c":"Absent kneecap; Absent patella; Absent patellae; Absent patellas; Aplastic patellae","HPO_Name__c":"Patellar aplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:988","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the tibia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005772","HPO_Synonym__c":"Absent/hypoplastic tibia; Absent/small shankbone; Absent/small shinbone; Absent/underdeveloped shankbone; Absent/underdeveloped shinbone; Aplastic/hypoplastic tibia","HPO_Name__c":"Aplasia/Hypoplasia of the tibia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:988","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hypoplastic/small or absent thumb.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009601","HPO_Synonym__c":"Absent or hypoplastic thumbs; Absent/hypoplastic thumb; Absent/hypoplastic thumbs; Absent/small thumb; Absent/underdeveloped thumb; Aplasia/hypoplasia of thumbs; Aplastic/hypoplastic thumbs; Hypoplastic to aplastic thumbs; Hypoplastic/absent thumb; Thumb aplasia/hypoplasia","HPO_Name__c":"Aplasia/Hypoplasia of the thumb","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:988","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of the calf bone (fibula), one of the two bones of the calf.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002991","HPO_Synonym__c":"Abnormality of fibula morphology; Abnormality of the calf bone","HPO_Name__c":"Abnormal fibula morphology","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":["absent tibia-polydactyly syndrome"," hypoplastic or aplastic tibia with polydactyly"," hypoplastic tibiae-postaxial polydactyly syndrome"," mesomelic dysplasia, werner type"," polydactyly with absent tibia"," thyp"," tibial hemimelia-polydactyly-triphalangeal thumbs with fibular dimelia"," tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome"," werner mesomelic spectrum"," werner mesomelic syndrome"]}