ORPHA:1745
Distal duplication 6p syndrome
Synonyms: Distal trisomy 6p · Telomeric duplication 6p · Trisomy 6pter
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
Distal trisomy of the short arm of chromosome 6 is characterized by pre- and postnatal growth retardation, a pattern of specific facial features (mostly of the eyes), microcephaly, and developmental delay.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal duplication 6p syndrome | Distal trisomy 6p · Telomeric duplication 6p · Trisomy 6pter |
| fr | Syndrome de duplication distale 6p | Duplication 6pter · Duplication télomérique 6p · Trisomie 6pter · Trisomie distale 6p |
| de | Distale Duplikation 6p | Distale Trisomie 6p · Telomere Duplikation 6p · Trisomie 6pter |
| es | Síndrome de duplicación terminal 6p | Trisomía 6pter · Trisomía terminal 6p |
| it | Sindrome duplicazione 6p distale | Trisomia distale 6p · Duplicazione 6p telomerica · Trisomia 6pter |
| nl | Distale duplicatie 6p-syndroom | Distale trisomie 6p · Telomerische duplicatie 6p · Trisomie 6pter |
| pt | Síndome de duplicação distal 6p | Duplicação telomérica 6p · Trissomia 6pter · Trissomia distal 6p |
| pl | Zespół duplikacji dystalnej 6p | Dystalna duplikacja 6p · Telomerowa duplikacja 6p · Trisomia 6pter |
| cs | Distální trizomie 6p | Distální duplikace 6p · Telomerická duplikace 6p · Trizomie 6pter |
| uk | Дистальна дуплікація 6p | Дистальна трисомія 6р · Теломерна дуплікація 6p · Трисомія 6pter |
| zh | 6号染色体短臂远端三体 | 6号染色体短臂末端着丝粒重复 |
| tr | Distal trizomi 6p | Trizomi 6pter · Distal duplikasyon 6p · Telomerik duplikasyon 6p |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q92.3 | NTBT | attributed | validated |
| ICD-11 | LD41.51 | NTBT | index | validated |
| MONDO | 0015769 | E | validated | |
| UMLS | C4302551 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:262740Partial duplication of the short arm of chromosome 6 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 40 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| 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.
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HPO phenotypes
33 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000499 | Abnormal eyelash morphology | |
| HP:0011362 | Abnormal hair quantity | |
| HP:0002916 | Abnormality of chromosome segregation | |
| HP:0000581 | Blepharophimosis | |
| HP:0000958 | Dry skin | |
| HP:0002213 | Fine hair | |
| HP:0001263 | Global developmental delay | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000347 | Micrognathia | |
| HP:0000160 | Narrow mouth | |
| HP:0000307 | Pointed chin | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000508 | Ptosis | |
| HP:0000960 | Sacral dimple | |
| HP:0000470 | Short neck | |
| HP:0004322 | Short stature | |
| HP:0000233 | Thin vermilion border | |
| Frequent (79-30%) | ||
| HP:0009896 | Abnormality of the antitragus | |
| HP:0009906 | Aplasia/Hypoplasia of the earlobes | |
| HP:0002007 | Frontal bossing | |
| HP:0100818 | Long thorax | |
| HP:0000369 | Low-set ears | |
| HP:0000639 | Nystagmus | |
| HP:0000486 | Strabismus | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0002101 | Abnormal lung lobation | |
| HP:0000079 | Abnormality of the urinary system | |
| HP:0008056 | Aplasia/Hypoplasia affecting the eye | |
| HP:0000518 | Cataract | |
| HP:0100790 | Hernia | |
| HP:0000126 | Hydronephrosis | |
| HP:0000089 | Renal hypoplasia | |
| HP:0006610 | Wide intermamillary distance | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1745
- This record as JSON: /data/d/1745.json