{"Name":"Arthrogryposis-like syndrome","DiseaseID__c":"GARD:0003150","id":3150,"encodedName":"arthrogryposis-like-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Arthrogryposis-like syndrome","Xref_IDs__c":"702447002; C1859709; MEDGEN:349229; MONDO:0015241; ORPHA:1149","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":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0015241","Disease_Description__c":"A very rare congenital contracture disorder, reported exclusively in Yup'ik Eskimos of the Kuskokwim River delta region of Alaska, characterized by multiple contractures of large joints (predominantly the knees and ankles) that present at birth or during childhood but are lifelong; deformities of the spine, pelvis and feet; and sometimes proximally or distally displaced patellae and muscle atrophy in the limbs with contractures. Additional radiological features include mild vertebral wedging, elongation of the vertebral pedicle, and clubbing of the distal clavicle. An autosomal recessive pattern of inheritance has been suggested.","GARD_Name__c":"Arthrogryposis-like syndrome","GARD_Synonym__c":"kuskokwim disease; kuskokwim syndrome","Curated_Disease_Description_Source__c":"GARD:0003150","Curated_Disease_Description__c":"Kuskokwim disease is a congenital (present at birth) contracture disorder that occurs solely among Yup'ik Eskimos in and around the Kuskokwim River delta region of southwest Alaska. Affected individuals usually, but not always, have congenital contractures of large joints (especially knees and/or elbows) and spinal, pelvic, and foot deformities. Other skeletal features have also been reported. Kuskokwim disease has been shown to be caused by genetic changes in the FKBP10 gene and is inherited in an autosomal recessive manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as a Child","SourceID__c":"ORPHA:1149","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015241","ORPHANET_ID__c":"ORPHA:1149","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de kuskokwim","Spanish_Description_Source__c":"ORPHA:1149","Spanish_Description__c":"Es un trastorno de contracturas congénitas muy infrecuente descrito exclusivamente en los esquimales Yup'ik de la región del delta del río Kuskokwim en Alaska. Está caracterizado por múltiples contracturas de las grandes articulaciones (principalmente de rodillas y tobillos) que aparecen al nacimiento o durante la infancia y se padecen toda la vida; malformaciones de la columna vertebral, pelvis y pies; y, en ocasiones, desplazamiento proximal o distal de la rótula, y atrofia muscular de las extremidades con contracturas. Otras características radiológicas adicionales incluyen un discreto acuñamiento vertebral, elongación del pedículo vertebral y ensanchamiento de la clavícula distal. Se ha sugerido un patrón de herencia autosómico recesivo.","Spanish_Disease_Name__c":"síndrome de kuskokwim","Spanish_GARD_Synonym__c":"síndrome similar a artrogriposis","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":"Kuskokwim disease is a congenital (present at birth) contracture disorder that occurs solely among Yup'ik Eskimos in and around the Kuskokwim River delta region of southwest Alaska. Affected individuals usually, but not always, have congenital contractures of large joints (especially knees and/or elbows) and spinal, pelvic, and foot deformities. Other skeletal features have also been reported. Kuskokwim disease has been shown to be caused by genetic changes in the FKBP10 gene and is inherited in an autosomal recessive manner.","Curated_Disease_Description_Source__c":"GARD:0003150","GARD_Synonym__c":"kuskokwim disease; kuskokwim syndrome","Name":"Arthrogryposis-like syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"The Arthrogryposis Group","Website__c":"http://www.arthrogryposis.co.uk/"}],"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":"Childhood","Provided_By__c":"ORPHA:1149"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1149"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003150","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1859709","Source__c":"C1859709","Xref__c":"C1859709"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=349229","Source__c":"C1859709","Xref__c":"MEDGEN:349229"},{"URL__c":"https://www.orpha.net/en/disease/detail/1149","Source__c":"C1859709; MONDO:0015241; ORPHA:1149","Xref__c":"ORPHA:1149"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=702447002","Source__c":"C1859709; MONDO:0015241","Xref__c":"702447002"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015241","Source__c":"GARD:0003150","Xref__c":"MONDO:0015241"},{"URL__c":"https://medlineplus.gov/genetics/condition/kuskokwim-syndrome","Source__c":"GARD:0003150","Xref__c":"https://medlineplus.gov/genetics/condition/kuskokwim-syndrome"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FKBP10","GHR_URL__c":"https://medlineplus.gov/genetics/gene/fkbp10","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1149","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any abnormality of the clavicles (collar bones).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000889","HPO_Synonym__c":"Abnormal clavicles; Abnormal collarbone; Abnormality of the clavicle","HPO_Name__c":"Abnormal clavicle morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1149","HPO_Frequency__c":"Very frequent (80-99%)","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:1149","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The term gait disturbance can refer to any disruption of the ability to walk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001288","HPO_Synonym__c":"Abnormal gait; Abnormal walk; Difficulty in walking; Gait abnormalities; Gait difficulties; Gait disturbances; Impaired gait; Walking disability","HPO_Name__c":"Gait disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1149","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000995","HPO_Synonym__c":"Beauty mark; Melanocytic naevus; Melanocytic nevi; Nevocellular nevi; Pigmented naevi; Pigmented nevi","HPO_Name__c":"Melanocytic nevus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1149","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal morphology of vertebral body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003312","HPO_Synonym__c":"Abnormal vertebral bodies; Abnormally shaped vertebrae","HPO_Name__c":"Abnormal form of the vertebral bodies","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1149","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A small/hypoplastic or absent/aplastic radius.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006501","HPO_Synonym__c":"Absence or underdevelopment of the radius bone of the arm; Absent/small radius; Absent/underdeveloped radius; Radial aplasia/hypoplasia","HPO_Name__c":"Aplasia/Hypoplasia of the radius","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1149","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the patella.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006498","HPO_Synonym__c":"Absent or hypoplastic patellae; Absent/hypoplastic patella; Absent/small kneecap; Absent/underdeveloped kneecap; Aplastic or hypoplastic patellae; Hypoplastic or absent patella; Patellar aplasia/hypoplasia; Small to absent patellae","HPO_Name__c":"Aplasia/Hypoplasia of the patella","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1149","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an abnormal lateral curvature of the spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002650","HPO_Name__c":"Scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1149","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001315","HPO_Synonym__c":"Absent or decreased deep tendon reflexes; Decreased deep tendon reflexes; Decreased tendon reflexes; Decreased to absent deep tendon reflexes; Decreased/absent deep tendon reflexes; Depressed tendon reflexes; Diminished deep tendon reflexes; Diminished or absent deep tendon reflexes; Diminished or absent tendon reflexes; Hypoactive to absent deep tendon reflexes; Impaired tendon reflexes; Reduced/absent deep tendon reflexes; Weak or absent deep tendon reflexes","HPO_Name__c":"Reduced tendon reflexes","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1149","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["kuskokwim disease"," kuskokwim syndrome"]}