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MCID: CHR342
MIFTS: 46
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Chiari Malformation
Categories:
Eye 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 Eye diseases |
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NINDS
:
55
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 obstructive hydrocephalus. An important gene associated with Chiari Malformation is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways/superpathways are Neuroscience and Neural Crest Differentiation. The drugs Polyestradiol phosphate and Estradiol have been mentioned in the context of this disorder. Affiliated tissues include brain, cerebellum and spinal cord, and related phenotypes are behavior/neurological and growth/size/body region NIH Rare Diseases : 54 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 1Chiari malformation type 2Chiari malformation type 3Chiari 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 : 44 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 Wikipedia : 77 Chiari malformation (CM) is a structural defect in the cerebellum, characterized by a downward... more... |
MGI Mouse Phenotypes related to Chiari Malformation:47
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Drugs for Chiari Malformation (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 12)
Interventional clinical trials:(show all 18)
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MalaCards organs/tissues related to Chiari Malformation:42
Brain,
Cerebellum,
Spinal Cord,
Heart,
Tonsil,
Testes,
Bone
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Articles related to Chiari Malformation:(show top 50) (show all 923)
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Genes related to Chiari Malformation (0 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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Search
GEO
for disease gene expression data for Chiari Malformation.
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Cellular components related to Chiari Malformation according to GeneCards Suite gene sharing:
Biological processes related to Chiari Malformation according to GeneCards Suite gene sharing:
Molecular functions related to Chiari Malformation according to GeneCards Suite gene sharing:
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