{"Name":"Chiari type II malformation","DiseaseID__c":"GARD:0009232","id":9232,"encodedName":"chiari-type-ii-malformation","IsDeleted":false,"Disease_Name_Full__c":"Chiari type II malformation","Xref_IDs__c":"373587001; C0555206; HP:0025660; MEDGEN:108222; MONDO:0008816; OMIM:207950","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"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":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0008816","Disease_Description__c":"Arnold-Chiari malformation type II is a rare, central nervous system malformation characterized by caudal displacement of the cerebellum, pons, medulla and fourth ventricle through the foramen magnum into the spinal canal, and is typically associated with myelomeningocele. Variable other central nervous system abnormalities might be present (partial or complete agenesis of the corpus callosum, a small fourth ventricle, obstructive hydrocephalus, falx and tentorium defects, and polygyria). Symptoms include hypotonia, apnea with cyanosis, dysphagia, opisthotonus, nystagmus, spasticity, ataxia, and occipital headache.","GARD_Name__c":"Chiari type II malformation","GARD_Synonym__c":"arnold chiari malformation type ii; arnold chiari type 2; arnold-chiari malformation type 2; arnold-chiari malformation type ii; arnold-chiari type ii malformation; chiari malformation type 2; chiari malformation type ii; cm2","Curated_Disease_Description_Source__c":"GARD:0009232","Curated_Disease_Description__c":"Chiari malformation type 2 (CM type II) is a type of Chiari malformation in which both the cerebellum and brain stem tissue extend into the foramen magnum (the hole at the skull base for passing of the spinal cord). CM type II is usually accompanied by a myelomeningocele (a form of spina bifida that occurs when the spinal canal and backbone do not close before birth), which can result in partial or complete paralysis of the area below the spinal opening. While the severity of CM type II can vary greatly, it can potentially cause serious complications during infancy or childhood. The exact cause of CM type II is not known but it appears to be due to defects in the brain and spinal cord that occur during fetal development.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:1136","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008816","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Chiari malformation type 2 (CM type II) is a type of Chiari malformation in which both the cerebellum and brain stem tissue extend into the foramen magnum (the hole at the skull base for passing of the spinal cord). CM type II is usually accompanied by a myelomeningocele (a form of spina bifida that occurs when the spinal canal and backbone do not close before birth), which can result in partial or complete paralysis of the area below the spinal opening. While the severity of CM type II can vary greatly, it can potentially cause serious complications during infancy or childhood. The exact cause of CM type II is not known but it appears to be due to defects in the brain and spinal cord that occur during fetal development.","Curated_Disease_Description_Source__c":"GARD:0009232","GARD_Synonym__c":"arnold chiari malformation type ii; arnold chiari type 2; arnold-chiari malformation type 2; arnold-chiari malformation type ii; arnold-chiari type ii malformation; chiari malformation type 2; chiari malformation type ii; cm2","Name":"Chiari type II malformation","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Brain & Spine Foundation","Website__c":"https://www.brainandspine.org.uk/"},{"Account_Name__c":"Spina Bifida Association","Website__c":"https://www.spinabifidaassociation.org/"},{"Account_Name__c":"American Syringomyelia & Chiari Alliance Project","Website__c":"https://asap.org/"},{"Account_Name__c":"Conquer Chiari","Website__c":"https://www.conquerchiari.org"},{"Account_Name__c":"Bobby Jones Chiari & Syringomyelia Foundation","Website__c":"https://bobbyjonescsf.org/"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009232","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/207950","Source__c":"C0555206; MONDO:0008816","Xref__c":"OMIM:207950"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0555206","Source__c":"C0555206","Xref__c":"C0555206"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=108222","Source__c":"C0555206","Xref__c":"MEDGEN:108222"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=373587001","Source__c":"C0555206; MONDO:0008816","Xref__c":"373587001"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0025660","Source__c":"C0555206","Xref__c":"HP:0025660"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008816","Source__c":"GARD:0009232","Xref__c":"MONDO:0008816"}],"Inheritance__c":["Non-Mendelian inheritance"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:207950","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002483","HPO_Name__c":"Bulbar signs","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:207950","Feature__r":{"HPO_Description__c":"Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001251","HPO_Synonym__c":"Cerebellar ataxia","HPO_Name__c":"Ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:207950","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001274","HPO_Synonym__c":"Absence of corpus callosum; Absent corpus callosum; Agenesis of the corpus callosum; Callosal agenesis; Corpus callosum agenesis; Dysplastic or absent corpus callosum","HPO_Name__c":"Agenesis of corpus callosum","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:207950","Feature__r":{"HPO_Description__c":"Inspiratory stridor is a high pitched sound upon inspiration that is generally related to laryngeal abnormalities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005348","HPO_Name__c":"Inspiratory stridor","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:207950","Feature__r":{"HPO_Description__c":"Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002414","HPO_Name__c":"Spina bifida","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:207950","Feature__r":{"HPO_Description__c":"Generalized muscular hypotonia (abnormally low muscle tone).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001290","HPO_Synonym__c":"Generalized decreased muscle tone; Generalized muscular hypotonia; Hypotonia, generalized","HPO_Name__c":"Generalized hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:207950","Feature__r":{"HPO_Description__c":"Opisthotonus is defined as a dramatic abnormal posture due to spastic contraction of the extensor muscles of the neck, trunk, and lower extremities that produces a severe backward arching from neck to heel. In most cases, the trunk is elevated off the ground by a few inches. It is usually sudden in onset and can be sustained or repetitive. It can be considered a variant of decerebrate posturing involving a hyperextension of the neck, back, and limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002179","HPO_Synonym__c":"Arc de cercle; Opisthotonos","HPO_Name__c":"Opisthotonus","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:207950","Feature__r":{"HPO_Description__c":"Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002475","HPO_Synonym__c":"Meningomyelocele; Spina bifida cystica","HPO_Name__c":"Myelomeningocele","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:207950","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:207950","Feature__r":{"HPO_Description__c":"Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003396","HPO_Synonym__c":"Fluid-filled cyst in spinal cord; Syrinx","HPO_Name__c":"Syringomyelia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:207950","Feature__r":{"HPO_Description__c":"Difficulty in swallowing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002015","HPO_Synonym__c":"Difficulty swallowing; Poor swallowing; Swallowing difficulties; Swallowing difficulty","HPO_Name__c":"Dysphagia","Feature_System__c":"Nervous System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:207950","Feature__r":{"HPO_Description__c":"Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000238","HPO_Synonym__c":"Hydrocephaly; Nonsyndromal hydrocephalus; Too much cerebrospinal fluid in the brain","HPO_Name__c":"Hydrocephalus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:207950","Feature__r":{"HPO_Description__c":"Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002308","HPO_Synonym__c":"Arnold-Chiari malformation; Cerebellar tonsillar ectopia","HPO_Name__c":"Chiari malformation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:207950","Feature__r":{"HPO_Description__c":"Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001252","HPO_Synonym__c":"Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia","HPO_Name__c":"Hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:207950","Feature__r":{"HPO_Description__c":"A distinct type of headache characterized by piercing, throbbing, or electric-shock-like chronic pain in the upper neck, back of the head, and behind the ears, usually on one side.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012318","HPO_Name__c":"Occipital neuralgia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:207950","Feature__r":{"HPO_Description__c":"Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011968","HPO_Synonym__c":"Decreased oral intake; Feeding difficulties; Feeding problems; Poor feeding","HPO_Name__c":"Feeding difficulties","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:207950","Feature__r":{"HPO_Description__c":"Reduced strength and weakness of the muscles of the arms and legs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003690","HPO_Synonym__c":"Limb muscle weakness; Limb weakness","HPO_Name__c":"Limb muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:207950","Feature__r":{"HPO_Description__c":"A collection of pathologic conditions that result from progressive spinal cord dysfunction secondary to cord compression in the cervical spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002318","HPO_Synonym__c":"Cervical spondylotic myelopathy; Degenerative cervical myelopathy","HPO_Name__c":"Cervical myelopathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:207950","Feature__r":{"HPO_Description__c":"Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002282","HPO_Synonym__c":"Gray matter heterotopias; Heterotopia; Heterotopias; Neuronal heterotopia","HPO_Name__c":"Gray matter heterotopia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:207950","Feature__r":{"HPO_Description__c":"Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000961","HPO_Synonym__c":"Blue discoloration of the skin","HPO_Name__c":"Cyanosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["arnold chiari malformation type ii"," arnold chiari type 2"," arnold-chiari malformation type 2"," arnold-chiari malformation type ii"," arnold-chiari type ii malformation"," chiari malformation type 2"," chiari malformation type ii"," cm2"]}