Phenotypes associated with the disease Arnold-Chiari malformation type I (ORPHA:268882):
- Chiari type I malformation (HP:0007099): Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle. It is characterized by one or both pointed (not rounded) cerebellar tonsils that project 5 mm below the foramen magnum, measured by a line drawn from the basion to the opisthion (McRae Line). Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:268882)
- Headache (HP:0002315): Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:268882)
- Recurrent paroxysmal headache (HP:0002331): Repeated episodes of headache with rapid onset, reaching a peak within minutes and of short duration (less than one hour) with pain that is throbbing, pulsating, or bursting in quality. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:268882)
- Neck pain (HP:0030833): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the neck. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:268882)
- Small posterior fossa (HP:0040010). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:268882)
- Tinnitus (HP:0000360): Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:268882)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:268882)
- Cranial nerve compression (HP:0001293). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:268882)
- Vocal cord paralysis (HP:0001605): A loss of the ability to move the vocal folds. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:268882)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:268882)
- Gait ataxia (HP:0002066): A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:268882)
- Progressive cerebellar ataxia (HP:0002073). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:268882)
- Myelopathy (HP:0002196): Myelopathy is an descriptive term, referring to pathology leading to a neurologic deficit related to the spinal cord. The clinical diagnosis of myelopathy requires a detailed history and physical examination to define the clinical syndrome. Neuroimaging is indicated in most instances of new-onset myelopathy. It is indicated also when the worsening of a myelopathy is unexplained. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:268882)
- Vertigo (HP:0002321): An abnormal sensation of spinning while the body is actually stationary. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:268882)
- Lower limb hyperreflexia (HP:0002395): Increased intensity of the a reflex in the leg. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:268882)
- Increased intracranial pressure (HP:0002516): An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:268882)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:268882)
- Fused cervical vertebrae (HP:0002949): A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:268882)
- Syringomyelia (HP:0003396): Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:268882)
- Somatic sensory dysfunction (HP:0003474): An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:268882)
- Cervical C2/C3 vertebral fusion (HP:0004602): Fusion of cervical vertebrae at C2 and C3, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development, leading to a short neck with a low hairline at the back of the head, and restricted mobility of the upper spine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:268882)
- Anteriorly placed odontoid process (HP:0004608): Anterior mislocalization of the dens of the axis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:268882)
- Cranial nerve paralysis (HP:0006824). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:268882)
- Distal peripheral sensory neuropathy (HP:0007067): Peripheral sensory neuropathy affecting primarily distal sensation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:268882)
- Abnormal vestibulocochlear nerve morphology (HP:0009591): Any structural anomaly of the vestibulocochlear nerve. The vestibulocochlear nerve consists of the vestibular and cochlear nerves, also known as cranial nerve eight (CN VIII). Each nerve has distinct nuclei within the brainstem. The vestibular nerve is primarily responsible for maintaining body balance and eye movements, while the cochlear nerve is responsible for hearing. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:268882)
- Abnormality of the clivus (HP:0010558): An abnormality of the clivus, which is the inclined bony region of the posterior cranial fossa located between the sella turcica and the foramen magnum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:268882)
- Abnormality of the eleventh cranial nerve (HP:0010825): Abnormality of the eleventh cranial nerve. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:268882)
- Abnormality of the twelfth cranial nerve (HP:0010826): Abnormality of the twelfth cranial nerve. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:268882)
- Functional abnormality of the inner ear (HP:0011389): An abnormality of the function of the inner ear. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:268882)
- Areflexia of upper limbs (HP:0012046): Inability to elicit tendon reflexes in the upper limbs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:268882)
- Dysesthesia (HP:0012534): Painful sensations elicited by a nonpainful cutaneous stimulus such as a light touch or gentle stroking over affected areas of the body. Sometimes referred to as hyperpathia or hyperalgesia. Often perceived as an intense burning, dyesthesias may outlast the stimulus by several seconds. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:268882)
- Stiff neck (HP:0025258): A sensation of tightness in the neck when attempting to move it, especially after a period of inactivity. Neck stiffness often involves soreness and difficulty moving the neck, especially when trying to turn the head to the side. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:268882)
- Urinary incontinence (HP:0000020): Loss of the ability to control the urinary bladder leading to involuntary urination. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:268882)
- Photophobia (HP:0000613): Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:268882)
- Diplopia (HP:0000651): Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:268882)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:268882)
- Abnormality of the musculature of the lower limbs (HP:0001437). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:268882)
- Brain stem compression (HP:0002512). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:268882)
- Babinski sign (HP:0003487): Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:268882)
- Basilar impression (HP:0005758): Abnormal elevation of the floor of the posterior fossa including occipital condyles and foramen magnum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:268882)
- Adult onset sensorineural hearing impairment (HP:0008615): The presence of sensorineural deafness with late onset. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:268882)
- Central sleep apnea (HP:0010536): Sleep apnea results from a temporary loss of the central drive to the muscles responsible for breathing. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:268882)
- Basilar invagination (HP:0012366): Projection of the tip of the dens more than 5 mm above a line joining the hard palate to the posterior lip of the foramen magnum (Chamberlain's line) or the tip of the dens is greater than 7 mm above McGregor's line (the back of the hard palate to the lowest point of the occipital squama). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:268882)
- Fatigable weakness of swallowing muscles (HP:0030195): A type of weakness of the muscles involved in swallowing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:268882)