ORPHA:401935
14q24.1q24.3 microdeletion syndrome
Synonyms: Del(14)(q24.1q24.3) · Monosomy 14q24.1q24.3
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Neonatal
- Status
- active
14q24.1q24.3 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 14q24.1q24.3 microdeletion syndrome | Del(14)(q24.1q24.3) · Monosomy 14q24.1q24.3 |
| fr | Syndrome de microdélétion 14q24.1q24.3 | Del(14)(q24.1q24.3) · Monosomie 14q24.1q24.3 |
| de | Mikrodeletionssyndrom 14q24.1q24.3 | Del(14)(q24.1q24.3) · Monosomie 14q24.1q24.3 |
| es | Síndrome de microdeleción 14q24.1q24.3 | Del(14)(q24.1q24.3) · Monosomía 14q24.1q24.3 |
| it | Sindrome da microdelezione 14q24.1q24.3 | Del(14)(q24.1q24.3) · Monosomia 14q24.1q24.3 |
| nl | 14q24.1q24.3-microdeletiesyndroom | Del(14)(q24.1q24.3) · Monosomie 14q24.1q24.3 |
| pt | Síndrome de microdeleção 14q24.1q24.3 | |
| pl | Zespół mikrodelecji 14q24.1q24.3 | Del(14)(q24.1q24.3) · Monosomia 14q24.1q24.3 |
| cs | Mikrodeleční syndrom 14q24.1q24.3 | Del(14)(q24.1q24.3) · Monozomie 14q24.1q24.3 |
| uk | Синдром мікроделеції 14q24.1q24.3 | Del(14)(q24.1q24.3) · Моносомія 14q24.1q24.3 |
| zh | 14q24.1q24.3微缺失综合症 | 14q24.1q24.3单体 |
| tr | 14q24.1q24.3 mikrodelesyon sendromu | Del(14)(q24.1q24.3) · Monozomi 14q24.1q24.3 |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| MONDO | 0018429 | E | validated | |
| UMLS | C4750911 | 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 (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: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 | 24357125[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24357125[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.
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HPO phenotypes
24 annotations · validated 2019-12-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0001156 | Brachydactyly | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000316 | Hypertelorism | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0001382 | Joint hypermobility | |
| HP:0009778 | Short thumb | |
| HP:0000219 | Thin upper lip vermilion | |
| Occasional (29-5%) | ||
| HP:0001631 | Atrial septal defect | |
| HP:0000028 | Cryptorchidism | |
| HP:0003083 | Dislocated radial head | |
| HP:0000086 | Ectopic kidney | |
| HP:0002566 | Intestinal malrotation | |
| HP:0005852 | Limited elbow extension and supination | |
| HP:0000343 | Long philtrum | |
| HP:0011800 | Midface retrusion | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0004935 | Pulmonary artery atresia | |
| HP:0003196 | Short nose | |
| HP:0000319 | Smooth philtrum | |
| HP:0000664 | Synophrys | |
| HP:0001660 | Truncus arteriosus | |
| HP:0001629 | Ventricular septal defect | |
| HP:0000431 | Wide nasal bridge | |
Annotation source: 24357125[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/401935
- This record as JSON: /data/d/401935.json