Triploidy syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Antenatal, Neonatal
- Status
- active
Triploidy is a rare chromosomal anomaly, polyploidy, characterized by early in utero growth restriction, and multiple birth defects, including neural tube defects, facial abnormalities, cleft lip/palate, congenital heart anomalies, genital malformations, and peripheral skeletal abnormalities. It is usually prenatally lethal.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Triploidy syndrome | |
| fr | Syndrome de triploïdie | |
| de | Triploidie | |
| es | Síndrome de triploidía | |
| it | Sindrome triploidia | |
| nl | Triploïdiesyndroom | |
| pt | Triploidia | |
| pl | Zespół triploidii | |
| cs | Triploidie | |
| uk | Триплоїдія | |
| zh | 三倍体 | |
| tr | Triploidi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q92.7 | NTBT | attributed | validated |
| ICD-11 | LD42.0 | E | specific | validated |
| MONDO | 0018067 | E | validated | |
| MeSH | D057885 | E | validated | |
| UMLS | C0333693 | E | validated | |
| GARD | 5295 | 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 (4):
- ORPHA:98642Chromosomal anomaly with cataract
rare genetic diseases; rare ophthalmic disorders - ORPHA:471383Genetic lethal multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases - ORPHA:459787Lethal multiple congenital anomalies/dysmorphic syndrome
rare developmental anomalies during embryogenesis - ORPHA:96321Polyploidy 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 |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 12.6 / 100 000 | Europe | Value and class | Validated | 22234154[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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.
HPO phenotypes
34 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002916 | Abnormality of chromosome segregation | |
| HP:0000235 | Abnormality of the fontanelles or cranial sutures | |
| HP:0000028 | Cryptorchidism | |
| HP:0004331 | Decreased skull ossification | |
| HP:0000316 | Hypertelorism | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0000047 | Hypospadias | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000154 | Wide mouth | |
| Frequent (79-30%) | ||
| HP:0008056 | Aplasia/Hypoplasia affecting the eye | |
| HP:0000518 | Cataract | |
| HP:0000175 | Cleft palate | |
| HP:0006101 | Finger syndactyly | |
| HP:0002240 | Hepatomegaly | |
| HP:0000612 | Iris coloboma | |
| HP:0000158 | Macroglossia | |
| HP:0000347 | Micrognathia | |
| HP:0000774 | Narrow chest | |
| HP:0100335 | Non-midline cleft of the upper lip | |
| HP:0001539 | Omphalocele | |
| HP:0001561 | Polyhydramnios | |
| Occasional (29-5%) | ||
| HP:0001671 | Abnormal cardiac septum morphology | |
| HP:0005264 | Abnormality of the gallbladder | |
| HP:0001732 | Abnormality of the pancreas | |
| HP:0000062 | Ambiguous genitalia | |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0001360 | Holoprosencephaly | |
| HP:0000238 | Hydrocephalus | |
| HP:0002566 | Intestinal malrotation | |
| HP:0000256 | Macrocephaly | |
| HP:0002435 | Meningocele | |
| HP:0000160 | Narrow mouth | |
| HP:0000470 | Short neck | |
Run the differential on the 10 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3376
- This record as JSON: /data/d/3376.json