Distal duplication 5q syndrome
Synonyms: Distal trisomy 5q · Telomeric duplication 5q · Trisomy 5qter
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
Distal trisomy 5q is a rare chromosomal anomaly syndrome, resulting from a partial duplication of the long arm of chromosome 5, characterized by short stature, moderate intellectual disability, and craniofacial dysmorphism (microcephaly, flat facies, large, low-set dysplastic ears, down-slanted, almond-shaped palpebral fissures, hypertelorism, epicanthal folds, small nose, long philtrum, small mouth with thin upper lip, and micrognathia). Patients also frequently present speech and cognitive delay, cardiac (ventriculomegaly, ventricular septum defect) and skeletal abnormalities (craniosynostosis, radial agenesis, ulnar hypoplasia, brachydactyly) and genital malformations (hypospadias, cryptorchidism).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal duplication 5q syndrome | Distal trisomy 5q · Telomeric duplication 5q · Trisomy 5qter |
| fr | Syndrome de duplication distale 5q | Monosomie télomérique 5q · Trisomie 5qter · Trisomie distale 5q · Duplication 5qter · Duplication télomérique 5q |
| de | Distale Duplikation 5q | Distale Trisomie 5q · Duplikation 5q, distale · Telomere Duplikation 5q · Trisomie 5qter |
| es | Síndrome de duplicación terminal 5q | Trisomía 5qter · Trisomía terminal 5q |
| it | Sindrome duplicazione 5q distale | Trisomia 5q distale · Duplicazione 5q telomerica · Trisomia 5qter |
| nl | Distale duplicatie 5q-syndroom | Distale trisomie 5q · Telomerische duplicatie 5q · Trisomie 5qter |
| pt | Duplicação distal 5q | Duplicação telomérica 5q · Trissomia 5qter · Trissomia distal 5q |
| pl | Zespół duplikacji dystalnej 5q | Duplikacja dystalna 5q · Duplikacja telomerowa 5q · Trisomia 5qter |
| cs | Distální trizomie 5q | Distální duplikace 5q · Telomerická duplikace 5q · Trizomie 5qter |
| uk | Дистальна дуплікація 5q | Дистальна трисомія 5q · Теломерна дуплікація 5q · Трисомія 5qter |
| zh | 5号染色体长臂远端三体 | 5号染色体长臂端粒重复 |
| tr | Distal trizomi 5q | Trizomi 5qter · Distal duplikasyon 5q · Telomerik duplikasyon 5q |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q92.3 | NTBT | attributed | validated |
| ICD-11 | LD41.40 | NTBT | attributed | validated |
| MONDO | 0019880 | E | validated | |
| UMLS | C4706363 | 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:262869Partial duplication of the long arm of chromosome 5 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
30 annotations · validated 2017-10-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000252 | Microcephaly | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0001156 | Brachydactyly | |
| HP:0000670 | Carious teeth | |
| HP:0001363 | Craniosynostosis | |
| HP:0000028 | Cryptorchidism | |
| HP:0000750 | Delayed speech and language development | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000286 | Epicanthus | |
| HP:0012368 | Flat face | |
| HP:0100790 | Hernia | |
| HP:0000316 | Hypertelorism | |
| HP:0002984 | Hypoplasia of the radius | |
| HP:0003022 | Hypoplasia of the ulna | |
| HP:0000047 | Hypospadias | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0000343 | Long philtrum | |
| HP:0000369 | Low-set ears | |
| HP:0000400 | Macrotia | |
| HP:0000347 | Micrognathia | |
| HP:0000160 | Narrow mouth | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0003196 | Short nose | |
| HP:0000233 | Thin vermilion border | |
| HP:0001629 | Ventricular septal defect | |
| Occasional (29-5%) | ||
| HP:0009777 | Absent thumb | |
| HP:0011466 | Aplasia/Hypoplasia of the gallbladder | |
| HP:0000567 | Chorioretinal coloboma | |
| HP:0001651 | Dextrocardia | |
| HP:0000964 | Eczematoid dermatitis | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 9070658[PMID]_11050625[PMID]_16770806[PMID]_17955513[PMID]_23342975[PMID]_500089[PMID]_445868[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/96097
- This record as JSON: /data/d/96097.json