Diprosopus
Synonyms: Craniofacial duplication · Diprosopia
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- No data available
- Age of onset
- Antenatal
- Status
- active
Diprosopus is a rare, life-threatening developmental defect during embryogenesis, and a subtype of conjoined twins, characterized by partial or complete duplication of the facial structures on a single head, neck, trunk and body. It may be associated with congenital anomalies involving the cardiovascular, gastrointestinal, respiratory and central nervous systems. Cleft lip and palate have been reported in rare cases.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Diprosopus | Craniofacial duplication · Diprosopia |
| fr | Diprosopie | |
| de | Diprosopus | Diprosopie · Doppelgesicht |
| es | Diprosopus | Diprosopia · Duplicación cráneofacial |
| it | Diprosopia | |
| nl | Diprosopus | Craniofaciale duplicatie · Diprosopie |
| pt | Diprosopia | |
| pl | Diprosopia | = en |
| cs | Diprozopie | = en |
| uk | Diprosopus | Черепно-лицьова дуплікація · Дипросопія |
| zh | 双面畸形 | 颅面重复畸形 |
| tr | Diprosopus | Diprosopi · Kraniyofasiyal duplikasyon |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q89.4 | NTBT | attributed | validated |
| MONDO | 0015672 | E | validated | |
| UMLS | C0266731 | E | validated | |
| GARD | 1876 | 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:459787Lethal multiple congenital anomalies/dysmorphic syndrome
rare developmental anomalies during embryogenesis
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.2 / 100 000 | Argentina | Value and class | Validated | 27704687[PMID] |
| Cases/families | 33 cases | Worldwide | Case(s) | Validated | 27704687[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27704687[PMID] |
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
10 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001671 | Abnormal cardiac septum morphology | |
| HP:0000377 | Abnormal pinna morphology | |
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0000478 | Abnormality of the eye | |
| HP:0000271 | Abnormality of the face | |
| HP:0000366 | Abnormality of the nose | |
| HP:0000504 | Abnormality of vision | |
| HP:0002323 | Anencephaly | |
| HP:0000175 | Cleft palate | |
| Frequent (79-30%) | ||
| HP:0100335 | Non-midline cleft of the upper lip | |
Run the differential on the 9 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1681
- This record as JSON: /data/d/1681.json