Distal duplication 17q syndrome
Synonyms: Distal trisomy 17q · Telomeric duplication 17q · Trisomy 17qter
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
Distal trisomy 17q is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by intellectual disability, developmental delay, short stature, craniofacial dysmorphism (incl. microcephaly, low posterior hairline, frontal bossing, bitemporal narrowing, low-set and malformed ears, flat nasal bridge, long philtrum, wide mouth with downturned corners, thin upper lip) and a short, webbed neck, as well as skeletal anomalies (e.g. brachyrhizomelia, poly-/syndactyly) and joint hyperlaxity. Cardiac, cerebral, and urogenital anomalies are also frequently associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal duplication 17q syndrome | Distal trisomy 17q · Telomeric duplication 17q · Trisomy 17qter |
| fr | Syndrome de duplication distale 17q | Duplication 17qter · Duplication télomérique 17q · Trisomie 17qter · Trisomie distale 17q · Trisomie télomérique 17q |
| de | Distale Duplikation 17q | Distale Trisomie 17q · Telomere Duplikation 17q · Trisomie 17qter |
| es | Síndrome de duplicación terminal 17q | Trisomía 17qter · Trisomía terminal 17q |
| it | Sindrome duplicazione 17q distale | Duplicazione 17q telomerica · Trisomia 17qter · Trisomia 17q distale |
| nl | Distale duplicatie 17q-syndroom | Distale trisomie 17q · Telomerische duplicatie 17q · Trisomie 17qter |
| pt | Duplicação distal 17q | Duplicação telomérica 17q · Trissomia 17qter · Trissomia distal 17q |
| pl | Zespół duplikacji dystalnej 17q | Dystalna duplikacja 17q · Telomerowa duplikacja 17q · Trisomia 17qter |
| cs | Distální trizomie 17q | Distální duplikace 17q · Telomerická duplikace 17q · Trizomie 17qter |
| uk | Дистальна дуплікація 17q | Дистальна трисомія 17q · Теломерна дуплікація 17q · Трисомія 17qter |
| zh | 17号染色体长臂远端三体 | 17号染色体长臂远端重复 |
| tr | Distal trizomi 17q | Trizomi 17qter · Distal duplikasyon 17q · Telomerik çoğaltma 17q |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q92.3 | NTBT | attributed | validated |
| MONDO | 0018069 | E | validated | |
| MeSH | C536579 | E | validated | |
| UMLS | C4707663 | 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:262968Partial duplication of the long arm of chromosome 17 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 | 30 cases | Worldwide | Case(s) | Validated | 39619310[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 39619310[PMID]_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
42 annotations · validated 2016-10-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001263 | Global developmental delay | |
| HP:0010864 | Intellectual disability, severe | |
| Frequent (79-30%) | ||
| HP:0009911 | Abnormal temporal bone morphology | |
| HP:0000581 | Blepharophimosis | |
| HP:0000175 | Cleft palate | |
| HP:0000028 | Cryptorchidism | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000286 | Epicanthus | |
| HP:0002572 | Episodic vomiting | |
| HP:0002007 | Frontal bossing | |
| HP:0002857 | Genu valgum | |
| HP:0001822 | Hallux valgus | |
| HP:0001161 | Hand polydactyly | |
| HP:0000218 | High palate | |
| HP:0000316 | Hypertelorism | |
| HP:0002162 | Low posterior hairline | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0000768 | Pectus carinatum | |
| HP:0001761 | Pes cavus | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0008905 | Rhizomelia | |
| HP:0003510 | Severe short stature | |
| HP:0002000 | Short columella | |
| HP:0000322 | Short philtrum | |
| HP:0004322 | Short stature | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0000076 | Vesicoureteral reflux | |
| HP:0000154 | Wide mouth | |
| Occasional (29-5%) | ||
| HP:0006897 | Abducens palsy | |
| HP:0001627 | Abnormal heart morphology | |
| HP:0001747 | Accessory spleen | |
| HP:0001166 | Arachnodactyly | |
| HP:0008619 | Bilateral sensorineural hearing impairment | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0000752 | Hyperactivity | |
| HP:0001382 | Joint hypermobility | |
| HP:0001845 | Overlapping toe | |
| HP:0000411 | Protruding ear | |
| HP:0000075 | Renal duplication | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 477015[PMID]_12244560[PMID]_8267933[PMID]_3359688[PMID]_3265610[PMID]_3874592[PMID]_18444226[PMID]_20420026[PMID]_20420026[PMID]_26166353[PMID]_477015[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3379
- This record as JSON: /data/d/3379.json