X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome is characterised by intellectual deficit, epilepsy, facial dysmorphism and progressive joint contractures. It has been described in two boys. Hypotonia and feeding problems at birth were also reported. The mode of transmission is X-linked.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome | |
| fr | Syndrome de déficience intellectuelle liée à l'X-épilepsie-contracture progressive des articulations-dysmorphie | |
| de | X-chromosomale Intelligenzminderung-Epilepsie-progressive Gelenkkontrakturen-Dysmorphie-Syndrom | |
| es | Síndrome de discapacidad intelectual-epilepsia-contracturas progresivas de las articulaciones-dismorfia ligado al cromosoma X | |
| it | Sindrome disabilità intellettiva legata all'X-epilessia-contratture articolari progressive-facies caratteristica | |
| nl | X-gebonden intellectuele achterstand - epilepsie - progressieve gewrichtscontracturen - dysmorfie-syndroom | |
| pt | Síndrome de perturbação do desenvolvimento intelectual-epilepsia-contraturas articulares progressivas-dismorfia ligada ao X | |
| pl | Niepełnosprawność intelektualna sprzężona z chromosomem X- padaczka - postępujące przykurcze stawów - dysmorfizm | |
| cs | X-vázaný syndrom zahrnující mentální retardaci, epilepsii, progresivní kloubní kontraktury a dysmorfismus | |
| uk | Синдром Х-зчепленої розумової відсталості-епілепсії-прогресуючих контрактур суглобів-дисморфізму | |
| zh | X连锁智力障碍-癫痫-进行性关节挛缩-畸形综合征 | |
| tr | X'e bağlı zihinsel yetersizlik-epilepsi-ilerleyici eklem kontraktürleri-dismorfizm sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD90 | NTBT | attributed | validated |
| MONDO | 0019418 | E | validated | |
| UMLS | C4304917 | 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: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
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 | 8574418[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8574418[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
8 annotations · validated 2017-12-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000280 | Coarse facial features | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0001290 | Generalized hypotonia | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| HP:0002828 | Multiple joint contractures | |
| HP:0005876 | Progressive flexion contractures | |
| HP:0001250 | Seizure | |
Annotation source: 8574418[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85319
- This record as JSON: /data/d/85319.json