Chiari Malformation Type Ii (CM2)

Categories: Ear diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Chiari Malformation Type Ii

MalaCards integrated aliases for Chiari Malformation Type Ii:

Name: Chiari Malformation Type Ii 57 20 58 29 70
Arnold-Chiari Malformation 57 73 20 53 6
Chiari Malformation Type 2 20 58
Arnold Chiari Malformation Type Ii 20
Arnold-Chiari Malformation Type Ii 58
Arnold-Chiari Malformation Type 2 58
Chiari Type Ii Malformation 20
Cm2 57


Orphanet epidemiological data:

arnold-chiari malformation type ii
Inheritance: Not applicable; Age of onset: Childhood;


57 (Updated 20-May-2021)

symptom onset at birth or infancy arnold-chiari type ii is uniquely associated with myelomeningocele


chiari malformation type ii:
Inheritance multifactorial inheritance


Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis

External Ids:

OMIM® 57 207950
ICD10 via Orphanet 33 Q07.0
UMLS via Orphanet 71 C0003803 C0555206 C0750930
Orphanet 58 ORPHA1136
MedGen 41 C0555206
UMLS 70 C0555206

Summaries for Chiari Malformation Type Ii

NINDS : 53 Chiari malformations (CMs) are structural defects in the base of the skull and the cerebellum, the part of the brain that controls balance. When part of the cerebellum extends through the opening at the base of the skull, the cerebellum and brain stem can be pushed downward. The resulting pressure on the cerebellum can block the flow of cerebrospinal fluid (CSF, the liquid that surrounds and protects the brain and spinal cord) and can cause a range of symptoms including dizziness, muscle weakness, numbness, headache, and problems with hearing, balance, and coordination. Symptoms may change for some individuals depending on buildup of CSF and any resulting pressure on tissue and nerves. CMs are classified by the severity of the disorder and the parts of the brain that protrude into the spinal canal. The most common is Type I, which may not cause symptoms and is often found by accident during an examination for another condition. Type II (also called classic CM and Arnold-Chiari malformation) is usually accompanied by a myelomeningocele--a form of spina bifida that occurs when the spinal canal and backbone do not close before birth, causing the spinal cord to protrude through an opening in the back. This can cause partial or complete paralysis below the spinal opening. Symptoms of Type III--the most serious form of CM--include those seen in Type II, in addition to additional severe neurological defects. In CM Type IV, parts of the cerebellum are missing, and portions of the spinal cord may be visible. Other conditions sometimes associated with CM include hydrocephalus, syringomyelia (a fluid-filled cyst in the spinal cord), and spinal curvature.

MalaCards based summary : Chiari Malformation Type Ii, also known as arnold-chiari malformation, is related to chiari malformation type i and chiari malformation type 4, and has symptoms including ataxia, opisthotonus and inspiratory stridor. An important gene associated with Chiari Malformation Type Ii is FUZ (Fuzzy Planar Cell Polarity Protein). The drugs Polyestradiol phosphate and Estradiol have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, cerebellum and brain, and related phenotypes are agenesis of corpus callosum and nystagmus

GARD : 20 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 severe, life-threatening 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. Treatment includes surgery to ease symptoms and/or stop the progression of damage to the nervous system. For most people, surgery improves or stabilizes symptoms. Some people may require more than one surgery.

OMIM® : 57 Chiari malformation type II (CM2), also known as the Arnold-Chiari malformation, consists of elongation and descent of the inferior cerebellar vermis, cerebellar hemispheres, pons, medulla, and fourth ventricle through the foramen magnum into the spinal canal. CM2 is uniquely associated with myelomeningocele (open spina bifida; see 182940) and is found only in this population (Stevenson, 2004). It is believed to be a disorder of neuroectodermal origin (Schijman, 2004). For a general phenotypic description of the different forms of Chiari malformations, see Chiari malformation type I (CM1; 118420). (207950) (Updated 20-May-2021)

Wikipedia : 73 Chiari malformation (CM) is a structural defect in the cerebellum, characterized by a downward... more...

Related Diseases for Chiari Malformation Type Ii

Diseases in the Chiari Malformation family:

Chiari Malformation Type I Chiari Malformation Type Ii
Chiari Malformation Type 3 Chiari Malformation Type 4

Diseases related to Chiari Malformation Type Ii via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 223)
# Related Disease Score Top Affiliating Genes
1 chiari malformation type i 11.8
2 chiari malformation type 4 11.5
3 corpus callosum, agenesis of 11.4
4 chiari malformation type 3 11.3
5 craniosynostosis-hydrocephalus-arnold-chiari malformation type i-radioulnar synostosis syndrome 11.3
6 central sleep apnea 11.3
7 hydrocephalus, congenital, 1 11.3
8 craniofacial dyssynostosis with short stature 11.3
9 congenital laryngeal palsy 11.3
10 syringomyelia, noncommunicating isolated 11.2
11 mitral valve stenosis 11.1
12 pathologic nystagmus 10.8
13 chiari malformation 10.7
14 respiratory failure 10.7
15 myelomeningocele 10.6
16 scoliosis 10.5
17 headache 10.5
18 hydrocephalus 10.5
19 dysphagia 10.4
20 keratoconus 10.4
21 klippel-feil syndrome 10.4
22 intracranial hypertension 10.4
23 neural tube defects 10.4
24 ataxia and polyneuropathy, adult-onset 10.4
25 aspiration pneumonia 10.4
26 meningocele 10.4
27 papilledema 10.4
28 muscular atrophy 10.4
29 syncope 10.4
30 tremor 10.4
31 migraine with or without aura 1 10.3
32 noonan syndrome 1 10.3
33 hydrocephalus due to congenital stenosis of aqueduct of sylvius 10.3
34 arthropathy 10.3
35 neurofibromatosis 10.3
36 encephalocele 10.3
37 pseudo-turner syndrome 10.3
38 syringobulbia 10.3
39 hydromyelia 10.3
40 influenza 10.3
41 sleep apnea 10.3
42 keratosis 10.2
43 actinic keratosis 10.2
44 hemifacial spasm, familial 10.2
45 dandy-walker syndrome 10.2
46 idiopathic scoliosis 10.2
47 urinary tract infection 10.2
48 quadriplegia 10.2
49 vestibular nystagmus 10.2
50 neurogenic arthropathy 10.2

Graphical network of the top 20 diseases related to Chiari Malformation Type Ii:

Diseases related to Chiari Malformation Type Ii

Symptoms & Phenotypes for Chiari Malformation Type Ii

Human phenotypes related to Chiari Malformation Type Ii:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 agenesis of corpus callosum 31 frequent (33%) HP:0001274
2 nystagmus 31 HP:0000639
3 ataxia 31 HP:0001251
4 dysphagia 31 HP:0002015
5 hydrocephalus 31 HP:0000238
6 bulbar signs 31 HP:0002483
7 arnold-chiari malformation 31 HP:0002308
8 feeding difficulties 31 HP:0011968
9 limb muscle weakness 31 HP:0003690
10 gray matter heterotopia 31 HP:0002282
11 cyanosis 31 HP:0000961
12 syringomyelia 31 HP:0003396
13 generalized hypotonia 31 HP:0001290
14 myelomeningocele 31 HP:0002475
15 opisthotonus 31 HP:0002179
16 inspiratory stridor 31 HP:0005348
17 hypotonia 31 HP:0001252
18 cervical myelopathy 31 HP:0002318
19 occipital neuralgia 31 HP:0012318

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
bulbar signs
headache, occipital
Abdomen Gastrointestinal:
poor feeding

Head And Neck Eyes:

inspiratory stridor
expiratory apnea with cyanosis

Clinical features from OMIM®:

207950 (Updated 20-May-2021)

UMLS symptoms related to Chiari Malformation Type Ii:

ataxia; opisthotonus; inspiratory stridor; muscle spasticity; headache, occipital

GenomeRNAi Phenotypes related to Chiari Malformation Type Ii according to GeneCards Suite gene sharing:

# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased human papilloma virus 16 (HPV16) pseudovirus infection GR00306-A 8.96 AQP1 FUZ
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 8.8 FUZ
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 8.8 AQP1 FUZ

MGI Mouse Phenotypes related to Chiari Malformation Type Ii:

# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.62 AQP1 FUZ

Drugs & Therapeutics for Chiari Malformation Type Ii

Drugs for Chiari Malformation Type Ii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Polyestradiol phosphate Approved Phase 3 28014-46-2
Estradiol Approved, Investigational, Vet_approved Phase 3 50-28-2 5757
3 Estradiol 3-benzoate Phase 3
4 Hormones Phase 3
5 Estradiol 17 beta-cypionate Phase 3
6 Contraceptive Agents Phase 3
7 Hormone Antagonists Phase 3
8 Estrogens Phase 3
Nicotine Approved 54-11-5 942 89594
10 Pharmaceutical Solutions

Interventional clinical trials:

(show all 21)
# Name Status NCT ID Phase Drugs
1 Prospective Randomized Study of Duragen vs. Duraguard in Chiari Surgery Completed NCT00741858 Phase 3
2 Efficacy of Intravenous Acetaminophen as Analgesic Adjuvant Therapy in Children Undergoing Posterior Fossa Surgery Withdrawn NCT02532322 Phase 2 IV acetaminophen;normal saline
3 Dural Graft Equivalent Comparison Trial Unknown status NCT01667770
4 The Comparison of Different Questionnaires for Preoperative Screening and Perioperative Risk Prediction in Obstructive Sleep Apnea Patients in China Unknown status NCT03074747
5 Posterior Fossa Decompression With or Without Duraplasty for Chiari Type I Malformation With Syringomyelia Completed NCT02669836
6 An Audit of the Posterior Fossa Characterization in Open Spina Bifida Based on Tertiary Center Experience Completed NCT03544970
7 The Genetics of Chiari Type I Malformation (CMI) With or Without Syringomyelia Completed NCT01060800
8 Investigation of the Effects of Different Exercise Programs on Patients With Chiari Malformation Type 1 Completed NCT04220541
9 Genetic Analysis of the Chiari I Malformation Completed NCT00004738
10 Establishing the Physiology of Syringomyelia Completed NCT00001327
11 Impact of Prenatal Correction of Spina Bifida Using Fetoscopy and the SAFER Technique on Long-term Neurodevelopment. Completed NCT04356703
12 Online Acceptance and Commitment Therapy for Chronic Pain in Sample of People With Chiari Malformation Completed NCT04089670
13 Investigation of the Effects of Exercise Program Applied on Postoperative Period in Patients With Chiari Type 1 Malformation Recruiting NCT04073667
14 Multicenter, International, Prospective, Observational, Study Using Neuro-Patch® in Duraplasty in Neurosurgery (MiDura) Recruiting NCT04189172
15 Postural Control Quality in Chiari I Malformation: Evaluation in a Pediatric Population Recruiting NCT04679792
16 Fetal Endoscopic Surgery for Spina Bifida Recruiting NCT03315637
17 In Utero Endoscopic Correction of Myelomeningocele: Laparotomy Versus Percutaneous - A Pilot Study Recruiting NCT03856034
18 Study of Fetoscopic Repair of Myelomeningocele in Fetuses With Isolated Spina Bifida Recruiting NCT03090633
19 Arnold Chiari Malformation: the Otological Assessment as an Objective Criteria for Surgical Treatment Active, not recruiting NCT03295864
20 A Prospective Natural History Study of Patients With Syringomyelia Active, not recruiting NCT01150708
21 Dynamic Magnetic Resonance Imaging (MRI) and Quantitative MR Cerebral Spinal Fluid (CSF) Flow Studies in Craniovertebral Junction Anomalies Enrolling by invitation NCT00795080

Search NIH Clinical Center for Chiari Malformation Type Ii

Genetic Tests for Chiari Malformation Type Ii

Genetic tests related to Chiari Malformation Type Ii:

# Genetic test Affiliating Genes
1 Chiari Malformation Type Ii 29

Anatomical Context for Chiari Malformation Type Ii

MalaCards organs/tissues related to Chiari Malformation Type Ii:

Spinal Cord, Cerebellum, Brain, Heart, Pons, Pituitary, Eye

Publications for Chiari Malformation Type Ii

Articles related to Chiari Malformation Type Ii:

(show top 50) (show all 742)
# Title Authors PMID Year
Neural crest origins of the neck and shoulder. 57
16034409 2005
Chiari Type II malformation: past, present, and future. 57
15209488 2004
Contribution to the Study of Spina Bifida, Encephalocele, and Anencephalus. 57
17231474 1883
Distant large acute epidural hematoma after closed cerebrospinal fluid tapping through the anterior fontanelle: A case report and its pathogenesis. 61
33654562 2021
Anterior Distraction and Reduction with Posterior Stabilization for Basilar Invagination: A Novel Technique. 61
32891849 2021
Treatment approach to apnestic breathing in Arnold Chiari malformation: any role of non-invasive ventilation? 61
33448747 2020
Arnold-Chiari malformation: an uncommon etiology for a brief resolved, unexplained event in an infant. 61
32755536 2020
Laparoscopic Double Cholecystectomy in a Pediatric Patient for Gallbladder Duplication : An Unusual Case of Biliary Anatomy. 61
32683934 2020
Arnold-Chiari malformation type 1 as an unusual cause of acute respiratory failure: A case report. 61
33088525 2020
Utility of Motor Evoked Potential in Identification and Treatment of Suboptimal Positioning in Pediatric Craniovertebral Junction Abnormalities: A Case Report. 61
33031104 2020
Cerebellar syndrome after occipital nerve block: A case report. 61
32447975 2020
The impact of cerebral anomalies on cognitive outcome in patients with spina bifida: A systematic review. 61
32771303 2020
Surgical management of Chiari malformation type II. 61
32474814 2020
[Migraine? Arnold Chiari Malformation? Or Just a Migraine?] 61
32752959 2020
[Treatment approach to apnestic breathing in a patient with vocal cord paralysis due to Arnold Chiari malformation and tracheostomy]. 61
32755118 2020
Iatrogenic occlusion of bilateral jugular veins, subclavian vein, and superior vena cava after repeated jugular cannulation associated with Arnold-Chiari malformation: Successful endovascular treatment. 61
32051904 2020
Arnold-Chiari malformation type I and the posterior dislocation of the odontoid process aggravate prolonged weaning in a patient with severe viral pneumonia: a case report. 61
32046709 2020
Sleep endoscopy-directed management of Arnold-Chiari malformation: a child with persistent obstructive sleep apnea. 61
31992420 2020
Re: a case of a pharmacoresistant tachyarrhythmia associated with Arnold-Chiari malformation. 61
31942819 2020
Arnold-Chiari Malformation in a Patient with Bipolar I and Panic Disorders. 61
32303050 2020
Multiple Congenital Anomalies in a Patient with Interstitial 6q26 Deletion. 61
32021599 2020
The Fetal Posterior Fossa on Prenatal Ultrasound Imaging: Normal Longitudinal Development and Posterior Fossa Anomalies. 61
31794996 2019
«A case of a pharmacoresistant tachyarrhythmia associated with Arnold-Chiari malformation». 61
31556758 2019
In Reply to "Letter to the Editor Regarding Meningitis or Xenograft: What Is Incriminating for Cerebrospinal Fluid Diversion in Arnold Chiari Malformation Type 1?" 61
31658574 2019
Reversible Central Hypoventilation Syndrome in Basilar Invagination. 61
31400526 2019
Reviewing the prognostic factors in myelomeningocele. 61
31574474 2019
Contemporary management and outcome of myelomeningocele: the Rotterdam experience. 61
31574477 2019
The prevalence and risk factors for foot pressure ulcers in ambulatory pediatric patients with spina bifida. 61
31480906 2019
Meningitis or Xenograft: What Is Incriminating for Cerebrospinal Fluid Diversion in Arnold Chiari Malformation Type 1? 61
31266100 2019
Hydrocephalus Due to Idiopathic Fourth Ventricle Outflow Obstruction. 61
31299790 2019
AQP1 Overexpression in the CSF of Obstructive Hydrocephalus and Inversion of Its Polarity in the Choroid Plexus of a Chiari Malformation Type II Case. 61
31039249 2019
Arnold-Chiari type 1 malformation in Potocki-Lupski syndrome. 61
31066191 2019
Gitelman syndrome with Arnold-Chiari malformation for neurosurgery. 61
31347583 2019
Rare Hereditary Klippel-Feil Syndrome and Arnold-Chiari Malformation Caused by Cervical Spondylotic Myelopathy. 61
30610988 2019
Persistent Central Apnea and Long-Term Outcome After Posterior Fossa Decompressive Surgery for Arnold Chiari Type 1 Malformation in a Pediatric Patient. 61
30952227 2019
Dizygotic opposite-sex twins with surgically repaired concordant myelomeningocele conceived by in vitro fertilization using intracytoplasmic sperm injection: a case report and review of the literature. 61
30349985 2019
Anesthetic management of parturients with Arnold Chiari malformation-I: a multicenter retrospective study. 61
30414718 2019
Encysted hydrocele of the canal of Nuck in an 11-month-old child with a past history of duodenal atresia and Arnold-Chiari malformation: A case report. 61
30681605 2019
Intravenous Sedation in Arnold-Chiari Malformation With Respiratory Failure. 61
30883227 2019
A Novel De Novo Heterozygous SCN4a Mutation Causing Congenital Myopathy, Myotonia and Multiple Congenital Anomalies. 61
31609695 2019
Management and outcomes of pediatric vocal cord paresis in Chiari malformation. 61
30368392 2018
Decompression for Chiari malformation type II in individuals with myelomeningocele in the National Spina Bifida Patient Registry. 61
30141752 2018
Twenty years' experience with myelomeningocele management at a single institution: lessons learned. 61
30004312 2018
Prevalence and risk factors for neural axis anomalies in idiopathic scoliosis: a systematic review. 61
29454133 2018
Sphenopalatine Ganglion Block Successfully Treats Migraines in a Type 1 Arnold Chiari Malformation Pregnant Patient: A Case Report. 61
29634560 2018
Predictors of mortality in children with myelomeningocele and symptomatic Chiari type II malformation. 61
29570035 2018
Bladder Reconstruction with Bowel: Robot-Assisted Laparoscopic Ileocystoplasty with Mitrofanoff Appendicovesicostomy in Pediatric Patients. 61
29774817 2018
Orofacial clinical features in Arnold Chiari type I malformation: A case series. 61
29750100 2018
A novel proximal 3q29 chromosome microdeletion in a Chinese patient with Chiari malformation type II and Sprengel's deformity. 61
29410707 2018
A Case of a Girl with Arnold-Chiari Type 1 Malformation with Precocious Puberty. 61
29383213 2018

Variations for Chiari Malformation Type Ii

ClinVar genetic disease variations for Chiari Malformation Type Ii:

# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SMARCA2 NM_003070.5(SMARCA2):c.2156T>C (p.Leu719Pro) SNV Uncertain significance 827775 rs1586680296 GRCh37: 9:2077748-2077748
GRCh38: 9:2077748-2077748

Expression for Chiari Malformation Type Ii

Search GEO for disease gene expression data for Chiari Malformation Type Ii.

Pathways for Chiari Malformation Type Ii

GO Terms for Chiari Malformation Type Ii

Sources for Chiari Malformation Type Ii

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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