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MCID: CHR342
MIFTS: 41
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Chiari Malformation
Categories:
Ear diseases, Fetal diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Chiari Malformation:
Classifications:
MalaCards categories:
Global: Rare diseases Fetal diseases Anatomical: Neuronal diseases Ear diseases |
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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, also known as arnold-chiari malformations, is related to chiari malformation type i and hydrocephalus. An important gene associated with Chiari Malformation is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways/superpathways are Neuroscience and Spinal Cord Injury. The drugs Polyestradiol phosphate and Estradiol have been mentioned in the context of this disorder. Affiliated tissues include cerebellum, spinal cord and brain, and related phenotypes are growth/size/body region and homeostasis/metabolism GARD : 20 Chiari malformations are structural defects in the cerebellum, the part of the brain that controls balance. When the indented bony space at the lower rear of the skull is smaller than normal, the cerebellum and brainstem can be pushed downward. The resulting pressure on the cerebellum can block the flow of cerebrospinal fluid (the liquid that surrounds and protects the brain and spinal cord) and can cause a range of symptoms including dizziness, muscle weakness, numbness, vision problems, headache, and problems with balance and coordination. The exact cause is still unknown. In some cases of Chiari Malformation type 1, genetic factors may be involved. Treatment may require surgery. There are four types of Chiari malformations classified according to the degree of severity, with type 1 being the most common and least severe: Chiari malformation type 1 Chiari malformation type 2 Chiari malformation type 3 Chiari malformation type 4 Some researchers add a type 0 to the classification, which is characterized by no or very little herniation of the cerebellum. MedlinePlus : 42 Chiari malformations (CMs) are structural defects in the cerebellum. The cerebellum is the part of the brain that controls balance. With CM, brain tissue extends into the spinal canal. It can happen when part of the skull is too small, which pushes the brain tissue down. There are several types of CM. One type often happens in children who have neural tube defects. Some types cause no symptoms and don't need treatment. If you have symptoms, they may include Neck pain Balance problems Numbness or other abnormal feelings in the arms or legs Dizziness Vision problems Difficulty swallowing Poor hand coordination Doctors diagnose CM using imaging tests. Medicines may ease some symptoms, such as pain. Surgery is the only treatment available to correct or stop the progression of nerve damage. NIH: National Institute of Neurological Disorders and Stroke KEGG : 36 Chiari malformations, also known as Arnold-Chiari syndrome, is a group of syndromes consisting of different kinds of pathologic conditions of the posterior fossa development. They are congenital in most cases, caused by structural defects in the brain spinal cord which may involve genetic mutations or lack of proper vitamins or nutrients in the maternal diet. Less frequently, Chiari malformations are acquired after birth. Causes of acquired Chiari malformations involve injuries, exposure to harmful substances, infections. More rarely, chronic subdural hematoma can be the cause of progressive caudal descent of the cerebellar tonsils. Chiari malformations were classified by Hans Chiari in 1891, into four groups. Chiari malformation type I (CM I), the most frequent of Chiari malformations, is characterized by the inferior displacement of cerebellar tonsillas through the foramen magnum. This leads to different symptoms and clinical features, such as headaches, syringomyelia, and hydrocephalus. CM II is characterized by displacement of the parts of the inferior vermis, pons, and medulla oblongata together with elongation of the fourth ventricle. Most cases are associated with myelomeningocele. CM III is characterized by an occipital or cervical encephalocele along with the intracranial abnormalities seen with CM II malformation and a wide foramen magnum. It causes severe neurological defects. CM IV is characterized by marked cerebellar hypoplasia or aplasia. Wikipedia : 73 Chiari malformation (CM) is a structural defect in the cerebellum, characterized by a downward... more... |
MGI Mouse Phenotypes related to Chiari Malformation:46
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Drugs for Chiari Malformation (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 10)
Interventional clinical trials:(show all 21)
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MalaCards organs/tissues related to Chiari Malformation:40
Cerebellum,
Spinal Cord,
Brain,
Heart,
Medulla Oblongata,
Pons,
Tonsil
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Articles related to Chiari Malformation:(show top 50) (show all 2276)
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Genes related to Chiari Malformation (0 elite genes):(show all 11) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Chiari Malformation:6
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Search
GEO
for disease gene expression data for Chiari Malformation.
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Biological processes related to Chiari Malformation according to GeneCards Suite gene sharing:
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