16p12.1p12.3 triplication syndrome
Synonyms: Tetrasomy 16p12.1p12.3 · Trip(16)(p12.1p12.3)
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
16p12.1p12.3 triplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial triplication of the short arm of chromosome 16 characterized by global developmental delay, pre- or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or, less commonly, infantile hepatic disease. Patients are also reported to have tapered fingers.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 16p12.1p12.3 triplication syndrome | Tetrasomy 16p12.1p12.3 · Trip(16)(p12.1p12.3) |
| fr | Syndrome de triplication 16p12.1p12.3 | Trip(16)(p12.1p12.3) · Tétrasomie 16p12.1p12.3 |
| de | Triplikation 16p12.1p12.3 | Trip(16)(p12.1p12.3) · Tetrasomie 16p12.1p12.3 |
| es | Síndrome de triplicación 16p12.1p12.3 | Tetrasomía 16p12.1p12.3 · Trip(16)(p12.1p12.3) |
| it | Sindrome da triplicazione 16p12.1p12.3 | |
| nl | 16p12.1p12.3 triplicatiesyndroom | Tetrasomie 16p12.1p12.3 · Trip(16)(p12.1p12.3) |
| pt | Síndrome de triplicação 16p12.1p12.3 | |
| pl | Zespół triplikacji 16p12.1p12.3 | Tetrasomia 16p12.1p12.3 · Tetrasomia 16p12.1-p12.3 · Trip(16)(p12.1p12.3) |
| cs | Syndrom triplikace 16p12.1p12.3 | = en |
| uk | Синдром тріплікації 16p12.1p12.3 | Тетрасомія 16р12.1р12.3 · Trip(16)(p12.1p12.3) |
| zh | 16p12.1p12.3三体综合征 | 染色体16p12.1p12.3三体综合征 |
| tr | 16p12.1p12.3 triplikasyon sendromu | Trip(16)(p12.1p12.3) · Tetrazomi 16p12.1p12.3 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q93.7 | NTBT | attributed | validated |
| MONDO | 0044621 | E | validated | |
| UMLS | C5680097 | 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 (3):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:262794Partial duplication of the short arm of chromosome 16 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 | 3 cases | Worldwide | Case(s) | Validated | 26647099[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26647099[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
44 annotations · validated 2020-01-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0000414 | Bulbous nose | |
| HP:0010862 | Delayed fine motor development | |
| HP:0002194 | Delayed gross motor development | |
| HP:0000286 | Epicanthus | |
| HP:0001508 | Failure to thrive | |
| HP:0002705 | High, narrow palate | |
| HP:0009748 | Large earlobe | |
| HP:0000343 | Long philtrum | |
| HP:0000369 | Low-set ears | |
| HP:0000272 | Malar flattening | |
| HP:0012745 | Short palpebral fissure | |
| HP:0001182 | Tapered finger | |
| HP:0000233 | Thin vermilion border | |
| HP:0007687 | Unilateral ptosis | |
| Occasional (29-5%) | ||
| HP:0004691 | 2-3 toe syndactyly | |
| HP:0001702 | Abnormal tricuspid valve morphology | |
| HP:0011040 | Abnormality of the intrahepatic bile duct | |
| HP:0000739 | Anxiety | |
| HP:0001631 | Atrial septal defect | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0008689 | Bilateral cryptorchidism | |
| HP:0001156 | Brachydactyly | |
| HP:0012450 | Chronic constipation | |
| HP:0040025 | Clinodactyly of the 4th finger | |
| HP:0000280 | Coarse facial features | |
| HP:0000824 | Decreased response to growth hormone stimulation test | |
| HP:0008947 | Floppy infant | |
| HP:0000293 | Full cheeks | |
| HP:0001822 | Hallux valgus | |
| HP:0000752 | Hyperactivity | |
| HP:0000540 | Hypermetropia | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000545 | Myopia | |
| HP:0012170 | Nail-biting | |
| HP:0001212 | Prominent fingertip pads | |
| HP:0000278 | Retrognathia | |
| HP:0009237 | Short 5th finger | |
| HP:0003196 | Short nose | |
| HP:0012166 | Skin-picking | |
| HP:0000486 | Strabismus | |
| HP:0001649 | Tachycardia | |
| HP:0000574 | Thick eyebrow | |
| HP:0000154 | Wide mouth | |
Annotation source: 17704777[PMID]_26647099[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/485405
- This record as JSON: /data/d/485405.json