The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Areflexia of upper limbs||-|
|Arnold-Chiari type I malformation||-|
|Limb muscle weakness||-|
|Lower limb hyperreflexia||-|
|Small flat posterior fossa||-|
Less frequently, Chiari malformation type 1 is acquired after birth. Causes of acquired Chiari malformation type 1 involve the excessive draining of spinal fluid from the lumbar or thoracic areas of the spine as a result of injury, exposure to harmful substances, or infection. Click here to view a diagram of the spine.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
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My daughter was diagnosed with Chiari 1 malformation during childhood. Several years ago she was diagnosed with acute scoliosis and a fusion of 2 cervical vertebrae. Could it be possible that the Chiari is causing the scoliosis, even if there is no tethered cord or syringomyelia? Should she be checked for Klippel Feil syndrome? See answer
I am 23 years old. For 3 years I have been suffering from this critical problem. Please suggest how I might get rid of it so I can enjoy my life. See answer
Is Arnold-Chiari malformation type 1 a genetic disorder? See answer
My friends little boy is 3-years-old and has been diagnosed with Chiari malformation type 1. Could you tell me how it will affect his life? Is the outcome good or bad? He suffers from headaches at the moment. See answer
What causes Chiari malformation type 1? How can I learn about research on this topic? In particular I'm interested in learning more about the role of genetics and possible links to radiation or drug exposure. See answer