{"Name":"Carney complex - trismus - pseudocamptodactyly syndrome","DiseaseID__c":"GARD:0017448","id":17448,"encodedName":"carney-complex-trismus-pseudocamptodactyly-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Carney complex - trismus - pseudocamptodactyly syndrome","Xref_IDs__c":"C1837245; MEDGEN:332400; MONDO:0012137; OMIM:608837; ORPHA:319340","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":6,"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":1,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0012137","Disease_Description__c":"Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities).","GARD_Name__c":"Carney complex - trismus - pseudocamptodactyly syndrome","GARD_Synonym__c":"carney complex variant; carney complex-trismus-pseudocamptodactyly syndrome","Curated_Disease_Description_Source__c":"MONDO:0012137","Curated_Disease_Description__c":"Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:319340","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012137","ORPHANET_ID__c":"ORPHA:319340","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome del complejo de carney-trismo-pseudocamptodactilia","Spanish_Description_Source__c":"ORPHA:319340","Spanish_Description__c":"Es un síndrome genético corazón-mano poco frecuente caracterizado por las manifestaciones típicas del complejo de Carney (pigmentación cutánea moteada, mixomas cardiacos y cutáneos familiares y endocrinopatía) asociadas a trismo y artrogriposis distal (que se presenta como una contracción involuntaria de las articulaciones interfalángicas distales y proximales de las manos, siendo evidente únicamente en la dorsiflexión de la muñeca y contracturas similares de las extremidades inferiores que producen malformaciones del pie).","Spanish_Disease_Name__c":"síndrome del complejo de carney-trismo-pseudocamptodactilia","Spanish_GARD_Synonym__c":"variante del complejo de carney","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":"Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities).","Curated_Disease_Description_Source__c":"MONDO:0012137","GARD_Synonym__c":"carney complex variant; carney complex-trismus-pseudocamptodactyly syndrome","Name":"Carney complex - trismus - pseudocamptodactyly syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"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":"Cardiology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin 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:319340"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=332400","Source__c":"C1837245","Xref__c":"MEDGEN:332400"},{"URL__c":"https://www.orpha.net/en/disease/detail/319340","Source__c":"C1837245; MONDO:0012137","Xref__c":"ORPHA:319340"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1837245","Source__c":"C1837245","Xref__c":"C1837245"},{"URL__c":"https://www.omim.org/entry/608837","Source__c":"C1837245; MONDO:0012137; ORPHA:319340","Xref__c":"OMIM:608837"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012137","Source__c":"GARD:0017448","Xref__c":"MONDO:0012137"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MYH8","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:608837","Feature__r":{"HPO_Description__c":"An inherited primary limb malformation disorder characterized by congenital contractures of two or more different body areas and without primary neurologic and/or muscle disease that affects limb function.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005684","HPO_Name__c":"Distal arthrogryposis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608837","Feature__r":{"HPO_Description__c":"A myxoma (tumor of primitive connective tissue) of the heart. Cardiac myxomas consist of stellate to plump, cytologically bland mesenchymal cells set in a myxoid stroma. Cardiac myxomas are of endocardial origin and general project from the endocardium into a cardiac chamber.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011672","HPO_Name__c":"Cardiac myxoma","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608837","Feature__r":{"HPO_Description__c":"Limitation in the ability to open the mouth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000211","HPO_Synonym__c":"Lockjaw; Pain of muscles of mastication","HPO_Name__c":"Trismus","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Cardiology","Dermatology","Orthopedics","Pediatrics"],"Disease Category":["Cancer","Genetics","Dermatology","Congenital Abnormality"],"Cause":["Genetics"],"Account":["Dermatology","Congenital limb malformation"]},"synonyms":["carney complex variant"," carney complex-trismus-pseudocamptodactyly syndrome"]}