Microtriplication 11q24.1 syndrome
Synonyms: Tetrasomy 11q24.1
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Childhood
- Status
- active
Microtriplication 11q24.1 is an extremely rare partial autosomal tetrasomy, resulting from a partial triplication of the long arm of chromosome 11, characterized by intellectual disability (with severe verbal impairment), short stature with small extremities, keratoconus and distinctive facial features (round, course face, upward slanting palpebral fissures, mild synophris, large nose with thick ala nasi and triangular tip, large mouth with broad lips, short and smooth philtrum, large protruded chin, ears with adherent lobules). Additionally, patients are overweight and present hypercholesterolemia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microtriplication 11q24.1 syndrome | Tetrasomy 11q24.1 |
| fr | Syndrome de microtriplication 11q24.1 | Tétrasomie 11q24.1 |
| de | Mikrotriplikation 11q24.1 | Tetrasomie 11q24.1 |
| es | Síndrome de microtriplicación 11q24.1 | Tetrasomía 11q24.1 |
| it | Sindrome microtriplicazione 11q24.1 | Tetrasomia 11q24.1 |
| nl | Microtriplicatie 11q24.1-syndroom | Tetrasomie 11q24.1 |
| pt | Microtriplicação 11q24.1 | Tetrassomia 11q24.1 |
| pl | Zespół mikrotriplikacji 11q24.1 | Tetrasomia 11q24.1 |
| cs | Mikrotriplikace 11q24.1 | Tetrazomie 11q24.1 |
| uk | Мікротріплікація 11q24.1 | Тетрасомія 11q24.1 |
| zh | 微三倍体11q24.1 | 11q24.1四体 |
| tr | Mikrotriplikasyon 11q24.1 | Tetrazomi 11q24.1 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q99.8 | NTBT | attributed | validated |
| MONDO | 0017335 | E | validated | |
| UMLS | C4749373 | 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 (3):
- 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:262923Partial duplication of the long arm of chromosome 11 syndrome
rare developmental anomalies during embryogenesis; 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 | 2 cases | Worldwide | Case(s) | Validated | 21617255[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_21617255[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
39 annotations · validated 2017-01-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0009907 | Attached earlobe | |
| HP:0011822 | Broad chin | |
| HP:0003763 | Bruxism | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000280 | Coarse facial features | |
| HP:0000750 | Delayed speech and language development | |
| HP:0002857 | Genu valgum | |
| HP:0002487 | Hyperkinetic movements | |
| HP:0003077 | Hyperlipidemia | |
| HP:0000316 | Hypertelorism | |
| HP:0001249 | Intellectual disability | |
| HP:0006316 | Irregularly spaced teeth | |
| HP:0001373 | Joint dislocation | |
| HP:0000563 | Keratoconus | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0000527 | Long eyelashes | |
| HP:0001840 | Metatarsus adductus | |
| HP:0001513 | Obesity | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0001773 | Short foot | |
| HP:0000322 | Short philtrum | |
| HP:0004322 | Short stature | |
| HP:0200055 | Small hand | |
| HP:0000319 | Smooth philtrum | |
| HP:0011098 | Speech apraxia | |
| HP:0000664 | Synophrys | |
| HP:0001762 | Talipes equinovarus | |
| HP:0000574 | Thick eyebrow | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0000445 | Wide nose | |
| Frequent (79-30%) | ||
| HP:0000175 | Cleft palate | |
| HP:0001290 | Generalized hypotonia | |
| HP:0000365 | Hearing impairment | |
| HP:0000252 | Microcephaly | |
| HP:0006951 | Retrocerebellar cyst | |
| HP:0002650 | Scoliosis | |
| HP:0000470 | Short neck | |
| Excluded (0%) | ||
| HP:0001250 | Seizure | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 21617255[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/289522
- This record as JSON: /data/d/289522.json