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- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
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Core Information
- Disease Name
- Arnold Chiari Malformation
- Standard Disease Name
- arnold chiari malformation
- MeSH Tree
- No data
- ICD-10
- Q07.0
Identifiers
- DO ID
- No data
- MeSH ID
- D001139
- OMIM ID
- MTHU007642|207950|MTHU010483|MTHU007908
- UMLS ID
- C0003803
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_02D:A rare genetic brain malformation characterized by displacement of the brain stem and cerebellum through the foramen magnum. It may result in hydrocephalus.|MSH2017_2016_08_12:A group of congenital malformations involving the brainstem, cerebellum, upper spinal cord, and surrounding bony structures. Type II is the most common, and features compression of the medulla and cerebellar tonsils into the upper cervical spinal canal and an associated MENINGOMYELOCELE. Type I features similar, but less severe malformations and is without an associated meningomyelocele. Type III has the features of type II with an additional herniation of the entire cerebellum through the bony defect involving the foramen magnum, forming an ENCEPHALOCELE. Type IV is a form a cerebellar hypoplasia. Clinical manifestations of types I-III include TORTICOLLIS; opisthotonus; HEADACHE; VERTIGO; VOCAL CORD PARALYSIS; APNEA; NYSTAGMUS, CONGENITAL; swallowing difficulties; and ATAXIA. (From Menkes, Textbook of Child Neurology, 5th ed, p261; Davis, Textbook of Neuropathology, 2nd ed, pp236-46)|MEDLINEPLUS_20151021:<p>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. Some cause no symptoms and don't need treatment. If you have symptoms, they may include</p> <ul> <li>Neck pain</li> <li>Balance problems</li> <li>Numbness or other abnormal feelings in the arms or legs</li> <li>Dizziness</li> <li>Vision problems</li> <li>Difficulty swallowing</li> <li>Poor hand coordination</li> </ul> <p>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.</p> <p >NIH: National Institute of Neurological Disorders and Stroke</p>|HPO2016_07_04:Arnold-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:curators]
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