X-linked intellectual disability-seizures-psoriasis syndrome
historical
Synonyms: Tranebjaerg-Svejgaard syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, psychomotor developmental delay, generalized seizures, and psoriasis. Mild craniofacial dysmorphism, such as hypertelorism, broad nasal bridge, anteverted nares, macrostomia, highly arched palate and large ears, is also associated. There have been no further descriptions in the literature since 1988.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked intellectual disability-seizures-psoriasis syndrome | Tranebjaerg-Svejgaard syndrome |
| fr | Syndrome de déficience intellectuelle liée à l'X-épilepsie-psoriasis | Syndrome de Tranebjaerg-Svejgaard |
| de | X-chromosomale Intelligenzminderung-Krämpfe-Psoriasis-Syndrom | Tranebjaerg-Svejgaard-Syndrom |
| es | Síndrome de discapacidad intelectual-crisis-psoriasis ligado al cromosoma X | Síndrome de Tranebjaerg-Svejgaard |
| it | Sindrome da disabilità intellettiva legata all'X-crisi epilettiche-psoriasi | Sindrome di Tranebjaerg-Svejgaard |
| nl | X-gebonden intellectuele achterstand - stuipen - psoriasis-syndroom | Syndroom van Tranebjaerg-Svejgaard |
| pt | Síndrome de perturbação do desenvolvimento intelectual-convulsões-psoríase ligada ao X | Síndrome Tranebjaerg-Svejgaard |
| pl | Niepełnosprawność intelektualna sprzężona z chromosomem X - ataki padaczkowe - łuszczyca | Zespół Tranebjaerga i Svejgaarda |
| cs | X-vázaný syndrom zahrnující mentální retardaci, záchvaty a psoriázu | Tranebjaergové-Svejgaardův syndrom · Tranebjaerg-Svejgaardův syndrom |
| uk | Синдром Х-зчепленої розумової відсталості-судом-псоріазу | Синдром Транебєрга-Свейгаарда |
| zh | X连锁智力障碍-癫痫-银屑病综合征 | Tranebjaerg-Svejgaard综合征 |
| tr | X'e bağlı zihinsel yetersizlik nöbetleri-psoriazis sendromu | Tranebjaerg-Svejgaard sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 309480 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0010652 | E | validated | |
| MeSH | C536978 | E | validated | |
| UMLS | C2931381 | E | validated | |
| GARD | 5238 | 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 (4):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:98683Syndromic disorder with strabismus
rare ophthalmic disorders - ORPHA:522520Syndromic genetic disorder with strabismus
rare genetic 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 | 4 cases | Worldwide | Case(s) | Validated | 3177453[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3177453[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
5 annotations · validated 2019-04-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001249 | Intellectual disability | |
| HP:0003765 | Psoriasiform dermatitis | |
| HP:0001250 | Seizure | |
| Excluded (0%) | ||
| HP:0008064 | Ichthyosis | |
| HP:0003538 | Increased serum iduronate sulfatase activity | |
Annotation source: 3177453[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3052
- This record as JSON: /data/d/3052.json