Tetrasomy 5p syndrome
Synonyms: Isochromosome 5p
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
Tetrasomy 5p is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by developmental delay, growth retardation/short stature, hypotonia, seizures, ventriculomegaly, hand and foot anomalies (e.g. clinodactyly, overlapping toes) and mosaic pigmentary skin changes. Patients may also present minor dysmorphic craniofacial features (incl. macrocephaly, upslanting palpebral fissures, hypertelorism, abnormal auricles, anteverted nasal tip, midface hypoplasia).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Tetrasomy 5p syndrome | Isochromosome 5p |
| fr | Syndrome de tétrasomie 5p | = en |
| de | Tetrasomie 5p | Isochromosom 5p |
| es | Síndrome de tetrasomía 5p | Isocromosoma 5p |
| it | Sindrome tetrasomia 5p | Isocromosoma 5p |
| nl | Tetrasomie 5p-syndroom | Isochromosoom 5p |
| pt | Tetrassomia 5p | |
| pl | Zespół tetrasomii 5p | Izochromosom 5p |
| cs | Tetrazomie 5p | Izochromozom 5p |
| uk | Тетрасомія 5р | Ізохромосома 5p |
| zh | 5号染色体短臂四体 | 5号染色体短臂等臂染色体 |
| tr | Tetrazomi 5p | İzokromozom 5p |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q99.8 | NTBT | attributed | validated |
| MONDO | 0018028 | E | validated | |
| UMLS | C0795813 | 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 (2):
- ORPHA:98642Chromosomal anomaly with cataract
rare genetic diseases; rare ophthalmic disorders - ORPHA:262725Partial duplication/triplication of the short arm of chromosome 5 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25424187[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 2016-10-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000463 | Anteverted nares | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0000280 | Coarse facial features | |
| HP:0001635 | Congestive heart failure | |
| HP:0000961 | Cyanosis | |
| HP:0012368 | Flat face | |
| HP:0000293 | Full cheeks | |
| HP:0001263 | Global developmental delay | |
| HP:0000238 | Hydrocephalus | |
| HP:0100807 | Long fingers | |
| HP:0000256 | Macrocephaly | |
| HP:0000347 | Micrognathia | |
| HP:0011800 | Midface retrusion | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0001845 | Overlapping toe | |
| HP:0000767 | Pectus excavatum | |
| HP:0006931 | Pericallosal lipoma | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0001250 | Seizure | |
| HP:0003196 | Short nose | |
| Frequent (79-30%) | ||
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0001508 | Failure to thrive | |
| HP:0030148 | Heart murmur | |
| HP:0000316 | Hypertelorism | |
| HP:0000343 | Long philtrum | |
| HP:0000369 | Low-set ears | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0004467 | Preauricular pit | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0005989 | Redundant neck skin | |
| HP:0002098 | Respiratory distress | |
| HP:0010109 | Short hallux | |
| HP:0000470 | Short neck | |
| HP:0001762 | Talipes equinovarus | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0010318 | Aplasia/Hypoplasia of the abdominal wall musculature | |
| HP:0007483 | Depigmentation/hyperpigmentation of skin | |
| HP:0000286 | Epicanthus | |
| HP:0000218 | High palate | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0001612 | Weak cry | |
| HP:0000260 | Wide anterior fontanel | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 22247041[PMID]_19938082[PMID]_11360274[PMID]_9021026[PMID]_7504882[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3309
- This record as JSON: /data/d/3309.json