{"Name":"Primary tethered cord syndrome","DiseaseID__c":"GARD:0004018","id":4018,"encodedName":"primary-tethered-cord-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Primary tethered cord syndrome","Xref_IDs__c":"70534000; 768939009; C4708602; MEDGEN:1636724; MONDO:0017086; ORPHA:268861","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":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0017086","Disease_Description__c":"Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as turfs of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated.","GARD_Name__c":"Primary tethered cord syndrome","GARD_Synonym__c":"primary tethered spinal cord syndrome; tethered cord syndrome","Curated_Disease_Description_Source__c":"GARD:0004018","Curated_Disease_Description__c":"Tethered cord syndrome is a rare neurological condition. The severity of the condition and the associated signs and symptoms vary from person to person. Features of the condition may include foot and spinal abnormalities; weakness in the legs; loss of sensation (feeling) in the lower limbs; lower back pain; scoliosis; and urinary incontinence. Infants and children with congenital Tethered cord syndrome may also have tufts of hair, dimples, skin discoloration, or benign fatty tumors on the lower back. Tethered cord syndrome occurs when tissue attachments limit the movement of the spinal cord within the spinal column. In some cases, it may be the result of improper growth of the neural tube during fetal development, which is closely linked to spina bifida. Other potential causes include narrowing of the spinal column (with age), spinal cord injury, tumors, and infection.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:268861","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017086","ORPHANET_ID__c":"ORPHA:268861","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de médula anclada primario","Spanish_Description_Source__c":"ORPHA:268861","Spanish_Description__c":"El síndrome primario de médula anclada es una malformación genética congénita no sindrómica del canal neurentérico, la médula espinal y la columna caracterizado por un deterioro neurológico progresivo (dolor, déficits sensitivomotores, alteración de la marcha, disminución del tono o reflejos alterados), cambios musculoesqueléticos (malformaciones y asimetría de los pies, atrofia muscular, debilidad y adormecimiento de las extremidades, escoliosis) y/o manifestaciones genitourinarias (disfunción vesical e intestinal). Se asocian con frecuencia lesiones cutáneas de la línea media en la región lumbosacra, tales como mechones de pelo, apéndices cutáneos, hoyuelos, lipomas subcutáneos, decoloración de la piel o hemangiomas.","Spanish_Disease_Name__c":"síndrome de médula anclada primario","Spanish_GARD_Synonym__c":"síndrome primario de médula espinal anclada","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":"Tethered cord syndrome is a rare neurological condition. The severity of the condition and the associated signs and symptoms vary from person to person. Features of the condition may include foot and spinal abnormalities; weakness in the legs; loss of sensation (feeling) in the lower limbs; lower back pain; scoliosis; and urinary incontinence. Infants and children with congenital Tethered cord syndrome may also have tufts of hair, dimples, skin discoloration, or benign fatty tumors on the lower back. Tethered cord syndrome occurs when tissue attachments limit the movement of the spinal cord within the spinal column. In some cases, it may be the result of improper growth of the neural tube during fetal development, which is closely linked to spina bifida. Other potential causes include narrowing of the spinal column (with age), spinal cord injury, tumors, and infection.","Curated_Disease_Description_Source__c":"GARD:0004018","GARD_Synonym__c":"primary tethered spinal cord syndrome; tethered cord syndrome","Name":"Primary tethered cord syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Spina Bifida Association","Website__c":"https://www.spinabifidaassociation.org/"},{"Account_Name__c":"Bobby Jones Chiari & Syringomyelia Foundation","Website__c":"https://bobbyjonescsf.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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:268861"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:268861"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4708602","Source__c":"C4708602","Xref__c":"C4708602"},{"URL__c":"https://www.orpha.net/en/disease/detail/268861","Source__c":"C4708602; MONDO:0017086; ORPHA:268861","Xref__c":"ORPHA:268861"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=70534000","Source__c":"MONDO:0017086","Xref__c":"70534000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1636724","Source__c":"C4708602","Xref__c":"MEDGEN:1636724"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017086","Source__c":"GARD:0004018","Xref__c":"MONDO:0017086"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=768939009","Source__c":"C4708602","Xref__c":"768939009"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Pediatrics"]},"synonyms":["primary tethered spinal cord syndrome"," tethered cord syndrome"]}