{"Name":"Arthrogryposis-severe scoliosis syndrome","DiseaseID__c":"GARD:0016672","id":16672,"encodedName":"arthrogryposis-severe-scoliosis-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Arthrogryposis-severe scoliosis syndrome","Xref_IDs__c":"715575001; C1836756; C563791; DOID:0111610; MEDGEN:373169; MONDO:0012195; OMIM:609128; ORPHA:65720","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":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0012195","Disease_Description__c":"Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal.","GARD_Name__c":"Arthrogryposis-severe scoliosis syndrome","GARD_Synonym__c":"arthrogryposis with severe scoliosis; arthrogryposis, distal, type iid; distal arthrogryposis type 4; distal arthrogryposis type iid","Curated_Disease_Description_Source__c":"ORPHA:65720","Curated_Disease_Description__c":"Arthrogryposis-severe scoliosis syndrome is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:65720","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012195","ORPHANET_ID__c":"ORPHA:65720","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de artrogriposis-escoliosis grave","Spanish_Description_Source__c":"ORPHA:65720","Spanish_Description__c":"La artrogriposis distal tipo 4 es un síndrome hereditario de trastornos del desarrollo que se caracteriza por contracturas congénitas múltiples de los miembros, sin enfermedades neurológicas y/o musculares primarias que afecten la función de los miembros, y una escoliosis entre leve y grave. La inteligencia es normal.","Spanish_Disease_Name__c":"síndrome de artrogriposis-escoliosis grave","Spanish_GARD_Synonym__c":"artrogriposis distal tipo 4; artrogriposis distal tipo iid","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":"Arthrogryposis-severe scoliosis syndrome is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal.","Curated_Disease_Description_Source__c":"ORPHA:65720","GARD_Synonym__c":"arthrogryposis with severe scoliosis; arthrogryposis, distal, type iid; distal arthrogryposis type 4; distal arthrogryposis type iid","Name":"Arthrogryposis-severe scoliosis syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Scoliosis Foundation","Website__c":"https://www.scoliosis.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":"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:65720"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563791","Source__c":"MONDO:0012195","Xref__c":"C563791"},{"URL__c":"https://www.omim.org/entry/609128","Source__c":"C1836756; MONDO:0012195; ORPHA:65720","Xref__c":"OMIM:609128"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715575001","Source__c":"C1836756; MONDO:0012195","Xref__c":"715575001"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=373169","Source__c":"C1836756","Xref__c":"MEDGEN:373169"},{"URL__c":"https://www.orpha.net/en/disease/detail/65720","Source__c":"C1836756; MONDO:0012195; ORPHA:65720","Xref__c":"ORPHA:65720"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111610","Source__c":"MONDO:0012195","Xref__c":"DOID:0111610"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1836756","Source__c":"C1836756","Xref__c":"C1836756"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012195","Source__c":"GARD:0016672","Xref__c":"MONDO:0012195"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:609128","Feature__r":{"HPO_Description__c":"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000639","HPO_Synonym__c":"Involuntary, rapid, rhythmic eye movements","HPO_Name__c":"Nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609128","Feature__r":{"HPO_Description__c":"Posterior positioning of the nasal root in relation to the overall facial profile for age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005280","HPO_Synonym__c":"Depressed bridge of nose; Depressed nasal bridge; Depressed nasal root; Flat bridge of nose; Flat nasal bridge; Flat nasal root; Flat, nasal bridge; Flattened nasal bridge; Low nasal bridge; Low nasal root; Retruded bridge of nose; Retruded nasal bridge","HPO_Name__c":"Depressed nasal bridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609128","Feature__r":{"HPO_Description__c":"Undergrowth of the outer labia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000059","HPO_Synonym__c":"Hypoplasia of labia majora; Small labia majora; Underdeveloped vaginal lips","HPO_Name__c":"Hypoplastic labia majora","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609128","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100500","HPO_Synonym__c":"Lateral deviation of toes","HPO_Name__c":"Fibular deviation of toes","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609128","Feature__r":{"HPO_Description__c":"The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012385","HPO_Synonym__c":"Permanent flexion of the finger or toe","HPO_Name__c":"Camptodactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609128","Feature__r":{"HPO_Description__c":"The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000954","HPO_Synonym__c":"Simian crease; 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Alternatively, an apparently decreased distance between the hairline and the glabella.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000294","HPO_Synonym__c":"Low frontal hairline; Low-set frontal hairline","HPO_Name__c":"Low anterior hairline","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609128","Feature__r":{"HPO_Description__c":"Hair on the neck extends more inferiorly than usual.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002162","HPO_Synonym__c":"Low hairline at back of neck; Low posterior hair line","HPO_Name__c":"Low posterior hairline","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609128","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010326","HPO_Synonym__c":"Displacement of the 2nd toe","HPO_Name__c":"Deviation of the 2nd toe","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609128","Feature__r":{"HPO_Description__c":"The distal interphalangeal joint and/or the proximal interphalangeal joint of the second to fifth fingers cannot be extended to 180 degrees by either active or passive extension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001215","HPO_Name__c":"Camptodactyly of 2nd-5th fingers","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609128","Feature__r":{"HPO_Description__c":"Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000938","HPO_Synonym__c":"Generalized osteopenia","HPO_Name__c":"Osteopenia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609128","Feature__r":{"HPO_Description__c":"Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001762","HPO_Synonym__c":"Club feet; Club foot; Clubbing of feet; Clubfeet; Clubfoot; Equinovarus; Foot, talipes equinovarus; Pes equinovarus; Pes equinus","HPO_Name__c":"Talipes equinovarus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609128","Feature__r":{"HPO_Description__c":"Asymmetry of the bones of the skull.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000267","HPO_Synonym__c":"Asymmetry of cranium; Cranial vault asymmetry","HPO_Name__c":"Cranial asymmetry","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609128","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008110","HPO_Name__c":"Equinovarus deformity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609128","Feature__r":{"HPO_Description__c":"Severe intellectual disability (ID) is defined as a type of ID characterized by severely sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 20-34.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010864","HPO_Synonym__c":"Early and severe mental retardation; Intellectual disability, severe; Mental retardation, severe; Severe mental retardation","HPO_Name__c":"Severe intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609128","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004626","HPO_Name__c":"Lumbar scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609128","Feature__r":{"HPO_Description__c":"Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000473","HPO_Synonym__c":"Cervical dystonia; Loxia; Spasmodic torticollis; Wry neck","HPO_Name__c":"Torticollis","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609128","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":"OMIM:609128","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100499","HPO_Synonym__c":"Medial deviation of toes","HPO_Name__c":"Tibial deviation of toes","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609128","Feature__r":{"HPO_Description__c":"A soft tissue continuity in the anteroposterior axis between the second to the fifth fingers that extends distally to at least the level of the proximal interphalangeal joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005650","HPO_Synonym__c":"Cutaneous syndactyly between fingers 2 and 5; Webbed 2nd-5th fingers","HPO_Name__c":"2-5 finger cutaneous 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":["arthrogryposis with severe scoliosis"," arthrogryposis, distal, type iid"," distal arthrogryposis type 4"," distal arthrogryposis type iid"]}