Arnold-Chiari malformation type I
Synonyms: Chiari malformation type 1 · Chiari malformation type I · Arnold-Chiari malformation type 1
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
A central nervous system malformation characterized by caudal displacement of the cerebellar tonsils exceeding 5mm below the foramen magnum with or without syringomyelia. Symptoms vary in onset and severity and include suboccipital headache, neck pain, vertigo, tinnitus, ocular symptoms (diplopia, blurred vision, photofobia, nystagmus), lower cranial nerve signs, cerebellar ataxia, and spasticity. Some affected individuals can be asymptomatic.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Arnold-Chiari malformation type I | Chiari malformation type 1 · Chiari malformation type I · Arnold-Chiari malformation type 1 |
| fr | Malformation d'Arnold-Chiari type I | Malformation d'Arnold-Chiari type 1 · Malformation de Chiari type 1 · Malformation de Chiari type I |
| de | Arnold-Chiari-Fehlbildung Typ I | Chiari-Malformation Typ 1 |
| es | Malformación de Arnold-Chiari tipo I | Malformación de Arnold-Chiari tipo 1 · Malformación de Chiari tipo 1 · Malformación de Chiari tipo I |
| it | Malformazione di Arnold-Chiari, tipo I | Malformazione di Arnold-Chiari, tipo 1 · Malformazione di Chiari, tipo 1 · Malformazione di Chiari, tipo I |
| nl | Malformatie van Arnold-Chiari type I | Chiari-malformatie type 1 · Chiari-malformatie type I · Malformatie van Arnold-Chiari type 1 |
| pt | Malformação de Arnold-Chiari, tipo I | Malformação de Arnold-Chiari, tipo 1 · Malformação de Chiari, tipo 1 · Malformação de Chiari, tipo I |
| pl | Malformacja Arnolda i Chiariego typu I | Malformacja Arnolda i Chiariego typu 1 · Malformacja Chiariego typu 1 · Malformacja Chiariego typu I |
| cs | Arnoldova-Chiariho malformace, typ I | Arnoldova-Chiariho malformace, typ 1 · Chiariho malformace, typ 1 · Chiariho malformace, typ I · Arnold-Chiariho malformace, typ I · Arnold-Chiariho malformace, typ 1 |
| uk | Вада Арнольда-Кіарі, тип I | Вада Арнольда-Кіарі, тип 1 · Вада Кіарі, тип 1 · Вада розвитку Кіарі, тип I |
| zh | Arnold-Chiari畸形Ⅰ型 | Arnold-Chiari畸形1型 |
| tr | Arnold-Chiari malformasyonu tip I | Chiari malformasyonu tip 1 · Chiari malformasyonu tip I · Arnold-Chiari malformasyon tip 1 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 118420 | E | validated | |
| ICD-10 | Q07.0 | NTBT | specific | validated |
| ICD-11 | LA07.4 | E | specific | validated |
| MONDO | 0007316 | E | validated | |
| MONDO | 7316 | E | validated | |
| UMLS | C0750929 | E | validated | |
| GARD | 9233 | E | validated | |
| MedDRA | 10056944 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:268843Malformation of the neurenteric canal, spinal cord and column
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DKK1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2891 | ENSG00000107984 | 605189 | 10q21.1 | dickkopf Wnt signaling pathway inhibitor 1 | 28513615[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
44 annotations · validated 2017-08-30| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0007099 | Chiari type I malformation | |
| Very frequent (99-80%) | ||
| HP:0002315 | Headache | |
| HP:0030833 | Neck pain | |
| HP:0002331 | Recurrent paroxysmal headache | |
| HP:0040010 | Small posterior fossa | |
| Frequent (79-30%) | ||
| HP:0010558 | Abnormality of the clivus | |
| HP:0010825 | Abnormality of the eleventh cranial nerve | |
| HP:0010826 | Abnormality of the twelfth cranial nerve | |
| HP:0009591 | Abnormality of the vestibulocochlear nerve | |
| HP:0004608 | Anteriorly placed odontoid process | |
| HP:0012046 | Areflexia of upper limbs | |
| HP:0004602 | Cervical C2/C3 vertebral fusion | |
| HP:0001293 | Cranial nerve compression | |
| HP:0006824 | Cranial nerve paralysis | |
| HP:0007067 | Distal peripheral sensory neuropathy | |
| HP:0012534 | Dysesthesia | |
| HP:0002015 | Dysphagia | |
| HP:0011389 | Functional abnormality of the inner ear | |
| HP:0002949 | Fused cervical vertebrae | |
| HP:0002066 | Gait ataxia | |
| HP:0002516 | Increased intracranial pressure | |
| HP:0002395 | Lower limb hyperreflexia | |
| HP:0002196 | Myelopathy | |
| HP:0000639 | Nystagmus | |
| HP:0002073 | Progressive cerebellar ataxia | |
| HP:0002650 | Scoliosis | |
| HP:0003474 | Somatic sensory dysfunction | |
| HP:0025258 | Stiff neck | |
| HP:0003396 | Syringomyelia | |
| HP:0000360 | Tinnitus | |
| HP:0002321 | Vertigo | |
| HP:0001605 | Vocal cord paralysis | |
| Occasional (29-5%) | ||
| HP:0001437 | Abnormality of the musculature of the lower limbs | |
| HP:0008615 | Adult onset sensorineural hearing impairment | |
| HP:0003487 | Babinski sign | |
| HP:0005758 | Basilar impression | |
| HP:0012366 | Basilar invagination | |
| HP:0002512 | Brain stem compression | |
| HP:0010536 | Central sleep apnea | |
| HP:0000651 | Diplopia | |
| HP:0030195 | Fatigable weakness of swallowing muscles | |
| HP:0001324 | Muscle weakness | |
| HP:0000613 | Photophobia | |
| HP:0000020 | Urinary incontinence | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 10232534[PMID]_8988080[PMID]_16765829[PMID]_15449382[PMID]_7482254[PMID]_6668471[PMID]_1141921[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/268882
- This record as JSON: /data/d/268882.json