3q13 microdeletion syndrome
Synonyms: Del(3)(q13) · Monosomy 3q13
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicanthic folds, anti-mongloid slanted eyes, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 3q13 microdeletion syndrome | Del(3)(q13) · Monosomy 3q13 |
| fr | Syndrome de microdélétion 3q13 | Del(3)(q13) · Monosomie 3q13 |
| de | Mikrodeletionssyndrom 3q13 | Del(3)(q13) · Monosomie 3q13 |
| es | Síndrome de microdeleción 3q13 | Del(3)(q13) · Monosomía 3q13 |
| it | Sindrome da microdelezione 3q13 | Del(3)(q13) · Monosomia 3q13 |
| nl | 3q13-microdeletiesyndroom | Del(3)(q13) · Monosomie 3q13 |
| pt | Síndrome de microdeleção 3q13 | Deleção 3q13 · Monossomia 3q13 |
| pl | Zespół mikrodelecji 3q13 | Del(3)(q13) · Monosomia 3q13 |
| cs | Syndrom 3q13 mikrodelece | Del(3)(q13) · Monozomie 3q13 |
| uk | Синдром мікроделеції 3q13 | Del(3)(q13) · Моносомія 3q13 |
| zh | 3q13微缺失综合征 | 3q13单体 |
| tr | 3q13 mikrodelesyon sendromu | Del(3)(q13) · Monozomi 3q13 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615433 | E | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.30 | NTBT | index | validated |
| MONDO | 0014185 | E | validated | |
| MeSH | C536808 | E | validated | |
| UMLS | C2931338 | 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:262019Partial deletion of the long arm of chromosome 3 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 | 42 cases | Worldwide | Case(s) | Validated | 24650298[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24650298[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
17 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000235 | Abnormality of the fontanelles or cranial sutures | |
| HP:0001155 | Abnormality of the hand | |
| HP:0000079 | Abnormality of the urinary system | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0000463 | Anteverted nares | |
| HP:0000028 | Cryptorchidism | |
| HP:0000286 | Epicanthus | |
| HP:0000316 | Hypertelorism | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0001252 | Hypotonia | |
| HP:0001387 | Joint stiffness | |
| HP:0000343 | Long philtrum | |
| HP:0000256 | Macrocephaly | |
| HP:0000774 | Narrow chest | |
| HP:0000470 | Short neck | |
| HP:0006610 | Wide intermamillary distance | |
| HP:0000431 | Wide nasal bridge | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1621
- This record as JSON: /data/d/1621.json