{"Name":"Digitotalar dysmorphism","DiseaseID__c":"GARD:0000787","id":787,"encodedName":"digitotalar-dysmorphism","IsDeleted":false,"Disease_Name_Full__c":"Digitotalar dysmorphism","Xref_IDs__c":"C565097; CN305314; DOID:0111596; MEDGEN:987924; MONDO:0015240; ORPHA:1146","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":5,"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":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0015240","Disease_Description__c":"A form of arthrogryposis characterized by contractures of the distal regions of the hands and feet in the absence of a primary neurological and/or muscle disease affecting limb function. Facial involvement is limited to a small mouth and impaired mouth opening. No additional anomalies are reported.","GARD_Name__c":"Digitotalar dysmorphism","GARD_Synonym__c":"arthrogryposis multiplex congenita distal type 1; da1; distal arthrogryposis type 1","Curated_Disease_Description_Source__c":"MONDO:0015240","Curated_Disease_Description__c":"A form of arthrogryposis characterized by contractures of the distal regions of the hands and feet in the absence of a primary neurological and/or muscle disease affecting limb function. Facial involvement is limited to a small mouth and impaired mouth opening. No additional anomalies are reported.","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:1146","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0015240","ORPHANET_ID__c":"ORPHA:1146","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Artrogriposis distal tipo 1","Spanish_Description_Source__c":"ORPHA:1146","Spanish_Description__c":"Es una forma de artrogriposis caracterizada por contracturas de las regiones distales de las manos y los pies en ausencia de enfermedad neurológica y/o muscular primaria que afecte a la funcionalidad de las extremidades. La afectación facial se restringe a una boca pequeña y a una limitación de la apertura bucal. No se hanm descrito otras anomalías adicionales.","Spanish_Disease_Name__c":"artrogriposis distal tipo 1","Spanish_GARD_Synonym__c":"da1; dismorfia digitotalar","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 form of arthrogryposis characterized by contractures of the distal regions of the hands and feet in the absence of a primary neurological and/or muscle disease affecting limb function. Facial involvement is limited to a small mouth and impaired mouth opening. No additional anomalies are reported.","Curated_Disease_Description_Source__c":"MONDO:0015240","GARD_Synonym__c":"arthrogryposis multiplex congenita distal type 1; da1; distal arthrogryposis type 1","Name":"Digitotalar dysmorphism","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Arthrogryposis Multiplex Congenita Support Inc.","Website__c":"https://www.amcsupport.org/"}],"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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological 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":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1146"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:1146"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0220662"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000787","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565097","Source__c":"MONDO:0015240","Xref__c":"C565097"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111596","Source__c":"MONDO:0015240","Xref__c":"DOID:0111596"},{"URL__c":"https://www.orpha.net/en/disease/detail/1146","Source__c":"CN305314; MONDO:0015240","Xref__c":"ORPHA:1146"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015240","Source__c":"GARD:0000787","Xref__c":"MONDO:0015240"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/CN305314","Source__c":"CN305314","Xref__c":"CN305314"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=987924","Source__c":"CN305314","Xref__c":"MEDGEN:987924"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TNNI2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tnni2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"MYH3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/myh3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"MYBPC1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/mybpc1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"TNNT3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tnnt3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"NALCN","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"TPM2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tpm2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1146","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001883","HPO_Name__c":"Talipes","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1146","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001181","HPO_Synonym__c":"Adducted thumbs; Inward turned thumb; Thumb-in-palm deformity; Thumb-in-palm pattern","HPO_Name__c":"Adducted thumb","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1146","HPO_Frequency__c":"Frequent (30-79%)","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:1146","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000160","HPO_Synonym__c":"Microstomia; Narrow mouth; Small mouth; Small oral aperture","HPO_Name__c":"Narrow mouth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1146","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the hip bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003272","HPO_Synonym__c":"Abnormality of the hip bone; Abnormality of the hips","HPO_Name__c":"Abnormal hip bone morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1146","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of both a prominent heel and a convex contour of the sole.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001838","HPO_Synonym__c":"Congenital vertical talus; Rocker bottom feet; Rocker bottom foot; Rocker-bottom feet; Rockerbottom feet","HPO_Name__c":"Rocker bottom foot","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1146","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001387","HPO_Synonym__c":"Joint stiffness; Stiff joint; Stiff joints","HPO_Name__c":"Joint stiffness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1146","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:1146","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A finger resting on the dorsal surface of an adjacent digit when the hand is at rest.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010557","HPO_Name__c":"Overlapping fingers","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Orthopedics","Neuromuscular medicine","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["arthrogryposis multiplex congenita distal type 1"," da1"," distal arthrogryposis type 1"]}