Mosaic trisomy 14 syndrome
Synonyms: Mosaic trisomy chromosome 14 · Trisomy 14 mosaicism
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
Mosaic trisomy 14 is a rare chromosomal anomaly disorder, with a highly variable phenotype, principally characterized by growth and developmental delay, intellectual disability, body asymmetry/hypotonia, congenital heart defects, genitourinary abnormalities (cryptorchidism, micropenis, large clitoris, labial swelling), and abnormal skin hyperpigmentation. Patients usually present with craniofacial dysmorphism such as microcephaly, abnormal palpebral fissure, hypertelorism, ear abnormalities, broad nose, low-set ears, micro/retro-gnathia, and cleft or highly arched palate.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mosaic trisomy 14 syndrome | Mosaic trisomy chromosome 14 · Trisomy 14 mosaicism |
| fr | Syndrome de trisomie 14 en mosaïque | |
| de | Mosaik-Trisomie 14 | Mosaik-Trisomie Chromosom 14 |
| es | Síndrome de trisomía 14 en mosaico | Trisomía del cromosoma 14 en mosaico |
| it | Sindrome trisomia 14 in mosaico | Trisomia 14 in mosaico · Trisomia del cromosoma 14 in mosaico |
| nl | Mozaïektrisomie 14-syndroom | Mozaïektrisomie chromosoom 14 · Trisomie 14 mozaïcisme |
| pt | Trissomia 14 em mosaico | |
| pl | Zespół mozaikowej trisomii chromosomu 14 | = en |
| cs | Mozaiková forma trizomie 14 | = en |
| uk | Мозаїчна трисомія 14 | Мозаїчна трисомія хромосоми 14 · Трисомія 14 мозаїчність |
| zh | 14号染色体嵌合三体 | 14号染色体嵌合三体 |
| tr | Mozaik trizomi 14 | Trizomi 14 mozaisizmi · Mozaik trizomi kromozomu 14 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q92.1 | NTBT | attributed | validated |
| ICD-11 | LD40.Y | NTBT | attributed | validated |
| MONDO | 0015725 | E | validated | |
| MeSH | C535489 | E | validated | |
| UMLS | C2930917 | E | validated | |
| GARD | 1327 | 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:98131Total autosomal trisomy 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 | 50 cases | Worldwide | Case(s) | Validated | 30181735[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 30181735[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
30 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0002916 | Abnormality of chromosome segregation | |
| HP:0001508 | Failure to thrive | |
| HP:0002007 | Frontal bossing | |
| HP:0001263 | Global developmental delay | |
| HP:0000218 | High palate | |
| HP:0001249 | Intellectual disability | |
| HP:0000347 | Micrognathia | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000470 | Short neck | |
| HP:0000154 | Wide mouth | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0000463 | Anteverted nares | |
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0000581 | Blepharophimosis | |
| HP:0000175 | Cleft palate | |
| HP:0000028 | Cryptorchidism | |
| HP:0004397 | Ectopic anus | |
| HP:0000316 | Hypertelorism | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0000047 | Hypospadias | |
| HP:0008551 | Microtia | |
| HP:0000774 | Narrow chest | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0000772 | Abnormal rib morphology | |
| HP:0008056 | Aplasia/Hypoplasia affecting the eye | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0100559 | Lower limb asymmetry | |
| HP:0000508 | Ptosis | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1703
- This record as JSON: /data/d/1703.json