ORPHA:261120
14q11.2 microdeletion syndrome
Synonyms: Monosomy 14q11.2 · Del(14)(q11.2)
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 14q11.2 microdeletion syndrome | Monosomy 14q11.2 · Del(14)(q11.2) |
| fr | Syndrome de microdélétion 14q11.2 | Del(14)(q11.2) · Monosomie 14q11.2 |
| de | Mikrodeletionssyndrom 14q11.2 | Del(14)(q11.2) · Monosomie 14q11.2 |
| es | Síndrome de microdeleción 14q11.2 | Del(14)(q11.2) · Monosomía 14q11.2 |
| it | Sindrome da microdelezione 14q11.2 | Del(14)(q11.2) · Monosomia 14q11.2 |
| nl | 14q11.2-microdeletiesyndroom | Del(14)(q11.2) · Monosomie 14q11.2 |
| pt | Síndrome de microdeleção 14q11.2 | |
| pl | Zespół mikrodelecji 14q11.2 | Del(14)(q11.2) · Monosomia 14q11.2 |
| cs | Syndrom mikrodelece 14q11.2 | Del(14)(q11.2) · Monozomie 14q11.2 |
| uk | Синдром мікроделеції 14q11.2 | Del(14)(q11.2) · Моносомія 14q11.2 |
| zh | 染色体14q11.2微缺失综合征 | 14q11.2单体 |
| tr | 14q11.2 mikrodelesyon sendromu | Del (14) (q11.2) · Monozomi 14q11.2 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613457 | E | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.E | NTBT | index | validated |
| MONDO | 0013272 | E | validated | |
| UMLS | C4304999 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:262110Partial deletion of the long arm of chromosome 14 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 17545556[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
25 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005280 | Depressed nasal bridge | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0002263 | Exaggerated cupid's bow | |
| HP:0000316 | Hypertelorism | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0000343 | Long philtrum | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0011344 | Severe global developmental delay | |
| HP:0003196 | Short nose | |
| Frequent (79-30%) | ||
| HP:0000581 | Blepharophimosis | |
| HP:0000337 | Broad forehead | |
| HP:0002002 | Deep philtrum | |
| HP:0000490 | Deeply set eye | |
| HP:0000286 | Epicanthus | |
| HP:0000218 | High palate | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0000995 | Melanocytic nevus | |
| HP:0000347 | Micrognathia | |
| HP:0000160 | Narrow mouth | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0000340 | Sloping forehead | |
| HP:0005338 | Sparse lateral eyebrow | |
| HP:0001863 | Toe clinodactyly | |
| HP:0001770 | Toe syndactyly | |
| HP:0001629 | Ventricular septal defect | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 21744488[PMID]_8010711[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/261120
- This record as JSON: /data/d/261120.json