Arnold-Chiari malformation type I
ORPHA:268882Morphological anomalyUnknownInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)44
Облигатный (100%)1
HP:0007099Chiari type I malformation
Очень частый (80–99%)4
HP:0002315Headache
HP:0002331Recurrent paroxysmal headache
HP:0030833Neck pain
HP:0040010Small posterior fossa
Частый (30–79%)27
HP:0000360Tinnitus
HP:0000639Nystagmus
HP:0001293Cranial nerve compression
HP:0001605Vocal cord paralysis
HP:0002015Dysphagia
HP:0002066Gait ataxia
HP:0002073Progressive cerebellar ataxia
HP:0002196Myelopathy
HP:0002321Vertigo
HP:0002395Lower limb hyperreflexia
HP:0002516Increased intracranial pressure
HP:0002650Scoliosis
HP:0002949Fused cervical vertebrae
HP:0003396Syringomyelia
HP:0003474Somatic sensory dysfunction
HP:0004602Cervical C2/C3 vertebral fusion
HP:0004608Anteriorly placed odontoid process
HP:0006824Cranial nerve paralysis
HP:0007067Distal peripheral sensory neuropathy
HP:0009591Abnormality of the vestibulocochlear nerve
HP:0010558Abnormality of the clivus
HP:0010825Abnormality of the eleventh cranial nerve
HP:0010826Abnormality of the twelfth cranial nerve
HP:0011389Functional abnormality of the inner ear
HP:0012046Areflexia of upper limbs
HP:0012534Dysesthesia
HP:0025258Stiff neck
Периодический (5–29%)12
HP:0000020Urinary incontinence
HP:0000613Photophobia
HP:0000651Diplopia
HP:0001324Muscle weakness
HP:0001437Abnormality of the musculature of the lower limbs
HP:0002512Brain stem compression
HP:0003487Babinski sign
HP:0005758Basilar impression
HP:0008615Adult onset sensorineural hearing impairment
HP:0010536Central sleep apnea
HP:0012366Basilar invagination
HP:0030195Fatigable weakness of swallowing muscles
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)