11p15.4 microduplication syndrome
Synonyms: Dup(11)p(15.4) · Trisomy 11p15.4
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare partial autosomal trisomy/tetrasomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 11p15.4 microduplication syndrome | Dup(11)p(15.4) · Trisomy 11p15.4 |
| fr | Syndrome de microduplication 11p15.4 | Dup(11)p(15.4) · Trisomie 11p15.4 |
| de | Mikroduplikationssyndrom 11p15.4 | Dup(11)p(15.4) · Trisomie 11p15.4 |
| es | Síndrome de microduplicación 11p15.4 | Dup(11)p(15.4) · Trisomía 11p15.4 |
| it | Sindrome da microduplicazione 11p15.4 | Dup(11)p(15.4) · Trisomia 11p15.4 |
| nl | 11p15.4-microduplicatiesyndroom | Dup(11)(p15.4) · Trisomie 11p15.4 |
| pt | Síndrome de microduplicação 11p15.4 | Dup(11)p(15.4) · Trissomia 11p15.4 |
| pl | Zespół mikroduplikacji 11p15.4 | Dup(11)p(15.4) · Trisomia 11p15.4 |
| cs | Mikroduplikační syndrom 11p15.4 | Dup(11)p(15.4) · Trizomie 11p15.4 |
| uk | Синдром мікродуплікації 11p15.4 | Dup(11)p(15.4) · Трисомія 11p15.4 |
| zh | 11p15.4微重复综合征 | 11p15.4三体 |
| tr | 11p15.4 mikroduplikasyon sendromu | Dup(11)p(15.4) · Trizomi 11p15.4 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q92.3 | NTBT | attributed | validated |
| ICD-11 | LD41.A | NTBT | index | validated |
| MONDO | 0017580 | E | validated | |
| UMLS | C4749508 | 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:93460Overgrowth syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:262785Partial duplication of the short 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 | 1 families | Worldwide | Family(ies) | Validated | 22052655[PMID] | |
| 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.
HPO phenotypes
18 annotations · validated 2019-10-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0000718 | Aggressive behavior | |
| HP:0000708 | Atypical behavior | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| Occasional (29-5%) | ||
| HP:0000463 | Anteverted nares | |
| HP:0012389 | Appendicular hypotonia | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0001176 | Large hands | |
| HP:0000343 | Long philtrum | |
| HP:0000400 | Macrotia | |
| HP:0001513 | Obesity | |
| HP:0011094 | Overbite | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0001250 | Seizure | |
| HP:0000319 | Smooth philtrum | |
| HP:0000664 | Synophrys | |
Annotation source: 22052655[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/300305
- This record as JSON: /data/d/300305.json