Trisomy 4p syndrome
Synonyms: Duplication 4p · Duplication of the short arm of chromosome 4 · Trisomy of the short arm of chromosome 4
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
Trisomy 4p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 4, with a highly variable phenotype, typically characterized by pre- and postnatal growth delay, psychomotor developmental delay and craniofacial dysmorphism (microcephaly, prominent glabelle, hypertelorism, enlarged ears with abnormal helix and antihelix, bulbous nose with flat or depressed nasal bridge, long philtrum, retrognathia with pointed chin). Additional features include skeletal (rocker bottom feet, arachnodactyly, camptodactyly) and renal malformations, cardiac defects, ocular abnormalities and abnormal genitalia in males.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Trisomy 4p syndrome | Duplication 4p · Duplication of the short arm of chromosome 4 · Trisomy of the short arm of chromosome 4 |
| fr | Syndrome de trisomie 4p | Duplication 4p · Trisomie du bras court du chromosome 4 |
| de | Trisomie 4p | Chromosom 4, Trisomie des kurzen Arms · Duplikation 4p · Chromosom 4, Duplikation des kurzen Arms |
| es | Síndrome de trisomía 4p | Duplicación 4p · Duplicación del brazo corto del cromosoma 4 · Trisomía del brazo corto del cromosoma 4 |
| it | Sindroe trisomia 4p | Duplicazione 4p · Duplicazione del braccio corto del cromosoma 4 · Trisomia del braccio corto del cromosoma 4 |
| nl | Trisomie 4p-syndroom | Duplicatie 4p · Duplicatie van de korte arm van chromosoom 4 · Trisomie van de korte arm van chromosoom 4 |
| pt | Trissomia 4p | Duplicação 4p · Trissomia 4p |
| pl | Zespół trisomii 4p | Duplikacja 4p · Duplikacja krótkiego ramienia chromosomu 4 · Trisomia krótkiego ramienia chromosomu 4 |
| cs | Trizomie 4p | Duplikace 4p · Duplikace krátkého raménka chromozomu 4 · Trizomie krátkého raménka chromozomu 4 |
| uk | Трисомія 4р | Дуплікація 4p · Дуплікація короткого плеча хромосоми 4 · Трисомія короткого плеча хромосоми 4 |
| zh | 4号染色体短臂三体 | 4号染色体短臂三体 |
| tr | Trizomi 4p | Duplikasyon 4p · 4. kromozomun kısa kolunun trizomisi · 4. kromozomun kısa kolunun duplikasyonu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q92.2 | NTBT | attributed | validated |
| ICD-11 | LD41.31 | NTBT | attributed | validated |
| MONDO | 0015767 | E | validated | |
| MeSH | C537643 | E | validated | |
| UMLS | C0265405 | E | validated | |
| GARD | 6091 | E | validated | |
| MedDRA | 10080079 | 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:262716Partial duplication of the short arm of chromosome 4 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 | 85 cases | Worldwide | Case(s) | Validated | 12239731[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_12239731[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
30 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010720 | Abnormal hair pattern | |
| HP:0000174 | Abnormal palate morphology | |
| HP:0002916 | Abnormality of chromosome segregation | |
| HP:0009738 | Abnormality of the antihelix | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0000670 | Carious teeth | |
| HP:0100543 | Cognitive impairment | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000316 | Hypertelorism | |
| HP:0001252 | Hypotonia | |
| HP:0000294 | Low anterior hairline | |
| HP:0000400 | Macrotia | |
| HP:0000252 | Microcephaly | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000311 | Round face | |
| HP:0000470 | Short neck | |
| HP:0004322 | Short stature | |
| HP:0000319 | Smooth philtrum | |
| HP:0000574 | Thick eyebrow | |
| HP:0006610 | Wide intermamillary distance | |
| Frequent (79-30%) | ||
| HP:0100490 | Camptodactyly of finger | |
| HP:0000028 | Cryptorchidism | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0002650 | Scoliosis | |
| HP:0000486 | Strabismus | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0000581 | Blepharophimosis | |
| HP:0000047 | Hypospadias | |
| HP:0001177 | Preaxial hand polydactyly | |
| HP:0004059 | Radial club hand | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1738
- This record as JSON: /data/d/1738.json