ORPHA:916
Aase-Smith syndrome type 1
historical
Synonyms: Aase-Smith I syndrome · Hydrocephalus-cleft palate-joint contractures syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- historical
A rare multiple congenital anomalies/dymorphic syndrome characterized by severe joint contractures, Dandy-Walker malformation with hydrocephalus, and cleft palate. There have been no further descriptions in the literature since 1985.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Aase-Smith syndrome type 1 | Aase-Smith I syndrome · Hydrocephalus-cleft palate-joint contractures syndrome |
| fr | Syndrome d'Aase-Smith type 1 | Syndrome d'hydrocéphalie-fente palatine-raideur articulaire |
| de | Aase-Smith-Syndrom Typ 1 | Aase-Smith Syndrom Typ I · Hydrozephalus-Gaumenspalte-Gelenkkontrakturen-Syndrom |
| es | Síndrome de Aase-Smith tipo 1 | Síndrome de Aase-Smith I · Síndrome de hidrocefalia-paladar hendido-contracturas articulares |
| it | Sindrome di Aase-Smith tipo 1 | Sindrome idrocefalo-palatoschisi-contratture articolari |
| nl | Syndroom van Aase-Smith type 1 | Aase-Smith I-syndroom · Hydrocefalie - gespleten gehemelte - gewrichtscontracturen-syndroom |
| pt | Síndrome Aase-Smith tipo 1 | Síndrome de hidrocefalia-fenda do palato-artrogripose · Síndrome Aase-Smith I |
| pl | Zespół Aase'a i Smitha typu 1 | Wodogłowie - rozszczep podniebienia - przykurcze stawów · Zespół Aase'a i Smitha I |
| cs | Aaseho-Smithův syndrom | Aaseho-Smithův syndrom I · Syndrom zahrnující hydrocefalus, rozštěp patra a kontraktury kloubů · Aase-Smithův syndrom · Aase-Smithův syndrom I |
| uk | Синдром Аазе-Сміта | Синдром Аазе-Сміта I · Синдром гідроцефалії-розщілини піднебіння-суглобових контрактур |
| zh | Aase-Smith综合征 | 脑积水-腭裂-关节挛缩综合征 |
| tr | Aase-Smith sendromu | Aase-Smith I sendromu · Hidrosefali-yarık damak-eklem kontraktür sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 147800 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0007839 | E | validated | |
| MeSH | C535332 | E | validated | |
| UMLS | C0220686 | E | validated | |
| GARD | 5642 | E | validated | |
| MedDRA | 10063429 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:269570Genetic syndrome with a Dandy-Walker malformation as a major feature
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases - ORPHA:269546Syndrome with a Dandy-Walker malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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.
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HPO phenotypes
14 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000377 | Abnormal pinna morphology | |
| HP:0003272 | Abnormality of the hip bone | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0000175 | Cleft palate | |
| HP:0001305 | Dandy-Walker malformation | |
| HP:0001387 | Joint stiffness | |
| HP:0002828 | Multiple joint contractures | |
| HP:0002650 | Scoliosis | |
| HP:0000211 | Trismus | |
| Frequent (79-30%) | ||
| HP:0006501 | Aplasia/Hypoplasia of the radius | |
| HP:0001762 | Talipes equinovarus | |
| Occasional (29-5%) | ||
| HP:0002664 | Neoplasm | |
| HP:0001238 | Slender finger | |
| HP:0000486 | Strabismus | |
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/916
- This record as JSON: /data/d/916.json