X-linked intellectual disability-cubitus valgus-dysmorphism syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
X-linked intellectual disability-cubitus valgus-dysmorphism syndrome is characterised by moderate intellectual deficit, marked <i>cubitus valgus</i>, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked intellectual disability-cubitus valgus-dysmorphism syndrome | |
| fr | Syndrome de déficience intellectuelle liée à l'X-cubitus valgus-dysmorphie | |
| de | X-chromosomale Intelligenzminderung-Cubitus valgus-Dysmorphie-Syndrom | |
| es | Síndrome de discapacidad intelectual-cubitus valgus-dismorfia ligado al cromosoma X | |
| it | Sindrome disabilità intellettiva legata all'X- cubito valgo-dismorfismi | |
| nl | X-gebonden intellectuele achterstand - cubitus valgus - dysmorfie-syndroom | |
| pt | Síndrome de perturbação do desenvolvimento intelectual-cúbito valgo-dismorfias ligada ao X | |
| pl | Niepełnosprawność intelektualna sprzężona z chromosomem X - łokieć koślawy - dysmorfia | |
| cs | X-vázaný syndrom zahrnující mentální retardaci, cubitus valgus a dysmorfismus | |
| uk | Синдром Х-зчепленої розумової відсталості-вальгусного кубітусу-дизморфізму | |
| zh | X连锁智力障碍-肘外翻-外貌畸形综合征 | |
| tr | X'e bağlı zihinsel yetersizlik-kubitus valgus-dismorfizm sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300471 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD90 | NTBT | attributed | validated |
| MONDO | 0010332 | E | validated | |
| UMLS | C4304935 | 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 | 5 cases | Worldwide | Case(s) | Validated | 14556244[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_14556244[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
17 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0002967 | Cubitus valgus | |
| HP:0000490 | Deeply set eye | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0000995 | Melanocytic nevus | |
| HP:0000322 | Short philtrum | |
| Frequent (79-30%) | ||
| HP:0000272 | Malar flattening | |
| HP:0000252 | Microcephaly | |
| HP:0001250 | Seizure | |
| HP:0001956 | Truncal obesity | |
| Occasional (29-5%) | ||
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0000218 | High palate | |
| HP:0000767 | Pectus excavatum | |
| HP:0004322 | Short stature | |
| HP:0001182 | Tapered finger | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 14556244[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85280
- This record as JSON: /data/d/85280.json