Clinical Signs and Symptoms
ORPHA:268882 Arnold-Chiari malformation type I
The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.
- Chiari type I malformation HP:0007099
Always present
- Headache HP:0002315
- Neck pain HP:0030833
- Recurrent paroxysmal headache HP:0002331
- Small posterior fossa HP:0040010
Very frequent
- Abnormality of the clivus HP:0010558
- Abnormality of the eleventh cranial nerve HP:0010825
- Abnormality of the twelfth cranial nerve HP:0010826
- Abnormality of the vestibulocochlear nerve HP:0009591
- Anteriorly placed odontoid process HP:0004608
- Areflexia of upper limbs HP:0012046
- Cervical C2/C3 vertebral fusion HP:0004602
- Cranial nerve compression HP:0001293
- Cranial nerve paralysis HP:0006824
- Distal peripheral sensory neuropathy HP:0007067
- Dysesthesia HP:0012534
- Dysphagia HP:0002015
- Functional abnormality of the inner ear HP:0011389
- Fused cervical vertebrae HP:0002949
- Gait ataxia HP:0002066
- Increased intracranial pressure HP:0002516
- Lower limb hyperreflexia HP:0002395
- Myelopathy HP:0002196
- Nystagmus HP:0000639
- Progressive cerebellar ataxia HP:0002073
- Scoliosis HP:0002650
- Somatic sensory dysfunction HP:0003474
- Stiff neck HP:0025258
- Syringomyelia HP:0003396
- Tinnitus HP:0000360
- Vertigo HP:0002321
- Vocal cord paralysis HP:0001605
Frequent
- Abnormality of the musculature of the lower limbs HP:0001437
- Adult onset sensorineural hearing impairment HP:0008615
- Babinski sign HP:0003487
- Basilar impression HP:0005758
- Basilar invagination HP:0012366
- Brain stem compression HP:0002512
- Central sleep apnea HP:0010536
- Diplopia HP:0000651
- Fatigable weakness of swallowing muscles HP:0030195
- Muscle weakness HP:0001324
- Photophobia HP:0000613
- Urinary incontinence HP:0000020
Occasional
Additional information
Further information
Specialised Social Services
Warning
The information provided is based on published scientific articles.
The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.
The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.
Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.