Mosaic trisomy 16 syndrome
Synonyms: Mosaic trisomy chromosome 16 · Trisomy 16 mosaicism
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
Mosaic trisomy 16 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from minor anomalies with normal development to intrauterine growth retardation, abnormal skin pigmentation, craniofacial and body asymmetry, cardiac (e.g. ventricular septal defect) and genital (e.g. hypospadias, cryptorchidism) anomalies, scoliosis and hearing loss to neonatal death. Additional features observed include skeletal malformations (e.g. clino/polydactyly, talipes), mild facial dysmorphism, and developmental delay.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mosaic trisomy 16 syndrome | Mosaic trisomy chromosome 16 · Trisomy 16 mosaicism |
| fr | Syndrome de trisomie 16 en mosaïque | |
| de | Mosaik-Trisomie 16 | Mosaik-Trisomie Chromosom 16 |
| es | Síndrome de trisomía 16 en mosaico | Trisomía del cromosoma 16 en mosaico |
| it | Sindrome trisomia 16 in mosaico | Trisomia 16 in mosaico · Trisomia del cromosoma 16 in mosaico |
| nl | Mozaïektrisomie 16-syndroom | Mozaïektrisomie chromosoom 16 · Trisomie 16 mozaïcisme |
| pt | Trissomia 16 em mosaico | |
| pl | Zespół mozaikowej trisomii chromosomu 16 | = en |
| cs | Mozaiková forma trizomie 16 | = en |
| uk | Мозаїчна трисомія 16 | Мозаїчна трисомія хромосоми 16 · Трисомія 16 мозаїчність |
| zh | 16号染色体嵌合三倍体 | 嵌合16号染色体三体 |
| tr | Mozaik trizomi 16 | Trizomi 16 mozaisizmi · Mozaik trizomi kromozomu 16 |
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 | 0015729 | E | validated | |
| UMLS | C4707009 | 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 |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
| Cases/families | 226 cases | Worldwide | Case(s) | Validated | 16557642[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
43 annotations · validated 2020-12-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001511 | Intrauterine growth retardation | |
| Frequent (79-30%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0100602 | Preeclampsia | |
| HP:0001622 | Premature birth | |
| HP:0001518 | Small for gestational age | |
| Occasional (29-5%) | ||
| HP:0000765 | Abnormal thorax morphology | |
| HP:0011024 | Abnormality of the gastrointestinal tract | |
| HP:0000119 | Abnormality of the genitourinary system | |
| HP:0100555 | Asymmetric growth | |
| HP:0001631 | Atrial septal defect | |
| HP:0030084 | Clinodactyly | |
| HP:0004484 | Craniofacial asymmetry | |
| HP:0000750 | Delayed speech and language development | |
| HP:0011471 | Gastrostomy tube feeding in infancy | |
| HP:0001263 | Global developmental delay | |
| HP:0000085 | Horseshoe kidney | |
| HP:0000047 | Hypospadias | |
| HP:0006267 | Large placenta | |
| HP:0009800 | Maternal diabetes | |
| HP:0002011 | Morphological central nervous system abnormality | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0001195 | Single umbilical artery | |
| HP:0001159 | Syndactyly | |
| HP:0001629 | Ventricular septal defect | |
| Very rare (<4-1%) | ||
| HP:0031703 | Abnormal ear morphology | |
| HP:0012372 | Abnormal eye morphology | |
| HP:0002088 | Abnormal lung morphology | |
| HP:0003319 | Abnormality of the cervical spine | |
| HP:0000366 | Abnormality of the nose | |
| HP:0001545 | Anteriorly placed anus | |
| HP:0001680 | Coarctation of aorta | |
| HP:0000365 | Hearing impairment | |
| HP:0002245 | Meckel diverticulum | |
| HP:0011470 | Nasogastric tube feeding in infancy | |
| HP:0005587 | Profuse pigmented skin lesions | |
| HP:0001250 | Seizure | |
| HP:0100864 | Short femoral neck | |
| HP:0005773 | Short forearm | |
| HP:0009778 | Short thumb | |
| HP:0011640 | Single coronary artery origin | |
| HP:0000954 | Single transverse palmar crease | |
| HP:0000154 | Wide mouth | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 12624135[PMID]_28383546[PMID]_9880211[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1708
- This record as JSON: /data/d/1708.json