Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare neurologic disease characterized by bilateral cataract, Dandy-Walker malformation, and childhood onset of distal spinal muscular atrophy. Patients present with progressively deteriorating symmetrical distal muscle weakness and atrophy of the lower limbs (and, to a much lesser degree, also the upper limbs) and decreased tendon reflexes in the lower and upper limbs.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome | |
| fr | Syndrome d'amyotrophie spinale-malformation de Dandy-Walker-cataracte | |
| de | Spinale Muskelatrophie-Dandy-Walker-Fehlbildung-Katarakt-Syndrom | |
| es | Síndrome de atrofia muscular espinal-malformación de Dandy-Walker-cataratas | |
| it | Sindrome atrofia muscolare spinale-malformazione di Dandy-Walker-cataratta | |
| nl | Spinale spieratrofie - Dandy-Walker malformatie - cataracten-syndroom | |
| pt | Síndrome de atrofia muscular espinhal-complexo de Dandy-Walker-catarata | |
| pl | Rdzeniowy zanik mięśni - malformacja Dandy'ego i Walkera - zaćma | |
| cs | Syndrom zahrnující spinální svalovou atrofii, Dandyho-Walkerovu malformaci a kataraktu | Syndrom zahrnující spinální svalovou atrofii, Dandy-Walkerovu malformaci a kataraktu |
| uk | Синдром спінальної мязової атрофії-мальформації Денді-Уокера-катаракти | |
| zh | 脊髓性肌萎缩-Dandy-Walker畸形-白内障综合征 | |
| tr | Spinal müsküler atrofi-Dandy-Walker malformasyon-katarakt sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G12.8 | NTBT | attributed | validated |
| MONDO | 0019132 | E | validated | |
| UMLS | C4509964 | 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 (2):
- ORPHA:207012Spinal muscular atrophy associated with central nervous system anomaly
rare genetic diseases; rare neurological diseases - ORPHA:269546Syndrome with a Dandy-Walker malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 16024908[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_16024908[PMID] |
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
7 annotations · validated 2017-10-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000518 | Cataract | |
| HP:0001320 | Cerebellar vermis hypoplasia | |
| HP:0001305 | Dandy-Walker malformation | |
| HP:0008944 | Distal lower limb amyotrophy | |
| HP:0002460 | Distal muscle weakness | |
| HP:0003444 | EMG: chronic denervation signs | |
| HP:0002280 | Enlarged cisterna magna | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 16024908[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/73245
- This record as JSON: /data/d/73245.json