Distal duplication 11q syndrome
Synonyms: Telomeric duplication 11q · Trisomy 11qter · Distal trisomy 11q
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
Distal trisomy 11q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 11, with high phenotypic variability principally characterized by craniofacial dysmorphism (brachycephaly/plagiocephaly, low-set, posteriorly rotated ears, short philtrum, micrognathia) and intellectual disability. Short stature and seizures, as well as cardiac (e.g. atrial septal defect), skeletal (incl. brachy/syndactyly) and genital (e.g. micropenis, cryptorchidism) abnormalities may also be associated. Neurodevelopmental anomalies (pain insensitivity, sensorineural hearing loss, expressive language deficiency) and neuropsychiatric disorders (autistic features, auditory hallucination, self-talking) have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal duplication 11q syndrome | Telomeric duplication 11q · Trisomy 11qter · Distal trisomy 11q |
| fr | Syndrome de duplication distale 11q | Duplication 11qter · Duplication télomérique 11q · Trisomie 11qter · Trisomie distale 11q · Trisomie télomérique 11q |
| de | Distale Duplikation 11q | Distale Trisomie 11q · Duplikation 11q, distale · Telomere Duplikation 11q · Trisomie 11qter |
| es | Síndrome de duplicación terminal 11q | Trisomía 11qter · Trisomía terminal 11q |
| it | Sindrome duplicazione 11q distale | Duplicazione 11q telomerica · Trisomia 11qter · Trisomia 11q distale |
| nl | Distale duplicatie 11q-syndroom | Distale trisomie 11q · Telomerische duplicatie 11q · Trisomie 11qter |
| pt | Duplicação distal 11q | Duplicação telomérica 11q · Trissomia 11qter · Trissomia distal 11q |
| pl | Zespół duplikacji dystalnej 11q | Duplikacja dystalna 11q · Duplikacja telomerowa 11q · Trisomia 11qter |
| cs | Distální trizomie 11q | Distální duplikace 11q · Telomerická duplikace 11q · Trizomie 11qter |
| uk | Дистальна дуплікація 11q | Дистальна трисомія 11q · Теломерна дуплікація 11q · Трисомія 11qter |
| zh | 11号染色体长臂远端三体 | 11号染色体长臂端粒重复 |
| tr | Distal trizomi 11q | Trizomi 11qter · Distal duplikasyon 11q · Telomerik duplikasyon 11q |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q92.3 | NTBT | attributed | validated |
| MONDO | 0019885 | E | validated | |
| MeSH | C538294 | E | validated | |
| UMLS | C2931797 | 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 (1):
- 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
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/96103
- This record as JSON: /data/d/96103.json