ORPHA:261250
16q24.3 microdeletion syndrome
Synonyms: Del(16)(q24.3) · Monosomy 16q24.3
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 16q24.3 microdeletion syndrome | Del(16)(q24.3) · Monosomy 16q24.3 |
| fr | Syndrome de microdélétion 16q24.3 | Del(16)(q24.3) · Monosomie 16q24.3 |
| de | Mikrodeletionssyndrom 16q24.3 | Del(16)(q24.3) · Monosomie 16q24.3 |
| es | Síndrome de microdeleción 16q24.3 | Del(16)(q24.3) · Monosomía 16q24.3 |
| it | Sindrome da microdelezione 16q24.3 | Del(16)(q24.3) · Monosomia 16q24.3 |
| nl | 16q24.3-microdeletiesyndroom | Del(16)(q24.3) · Monosomie 16q24.3 |
| pt | Síndrome de microdeleção 16q24.3 | |
| pl | Zespół mikrodelecji 16q24.3 | Del(16)(q24.3) · Monosomia 16q24.3 |
| cs | Syndrom mikrodelece 16q24.3 | Del(16)(q24.3) · Monozomie 16q24.3 |
| uk | Синдром мікроделеції 16q24.3 | Del(16)(q24.3) · Моносомія 16q24.3 |
| zh | 16q24.3微缺失综合征 | 16q24.3单体 |
| tr | 16q24.3 mikrodelesyon sendromu | Del (16) (q24.3) · Monozomi 16q24.3 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.G0 | NTBT | index | validated |
| MONDO | 0016838 | E | validated | |
| UMLS | C4304594 | E | validated | |
| GARD | 10935 | 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:262128Partial deletion of the long arm of chromosome 16 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ANKRD11 | Role in the phenotype of | Not yet assessed | HGNC:21316 | ENSG00000167522 | 611192 | 16q24.3 | ankyrin repeat domain 11 |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 27 cases | Worldwide | Case(s) | Validated | 28422132[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28422132[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
47 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000717 | Autism | |
| HP:0000348 | High forehead | |
| HP:0000411 | Protruding ear | |
| Frequent (79-30%) | ||
| HP:0030048 | Colpocephaly | |
| HP:0002007 | Frontal bossing | |
| HP:0000218 | High palate | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0000343 | Long philtrum | |
| HP:0000347 | Micrognathia | |
| HP:0000609 | Optic nerve hypoplasia | |
| HP:0007165 | Periventricular heterotopia | |
| HP:0000307 | Pointed chin | |
| HP:0001250 | Seizure | |
| HP:0000319 | Smooth philtrum | |
| HP:0002119 | Ventriculomegaly | |
| HP:0000154 | Wide mouth | |
| Occasional (29-5%) | ||
| HP:0010720 | Abnormal hair pattern | |
| HP:0000463 | Anteverted nares | |
| HP:0000483 | Astigmatism | |
| HP:0004422 | Biparietal narrowing | |
| HP:0000389 | Chronic otitis media | |
| HP:0000028 | Cryptorchidism | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001644 | Dilated cardiomyopathy | |
| HP:0002015 | Dysphagia | |
| HP:0011968 | Feeding difficulties | |
| HP:0000365 | Hearing impairment | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0001385 | Hip dysplasia | |
| HP:0005518 | Increased mean corpuscular volume | |
| HP:0002808 | Kyphosis | |
| HP:0000276 | Long face | |
| HP:0001653 | Mitral regurgitation | |
| HP:0000545 | Myopia | |
| HP:0000639 | Nystagmus | |
| HP:0000384 | Preauricular skin tag | |
| HP:0009623 | Proximal placement of thumb | |
| HP:0002650 | Scoliosis | |
| HP:0006315 | Single median maxillary incisor | |
| HP:0000486 | Strabismus | |
| HP:0012471 | Thick vermilion border | |
| HP:0001873 | Thrombocytopenia | |
| HP:0000325 | Triangular face | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0001629 | Ventricular septal defect | |
| HP:0000505 | Visual impairment | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 19920853[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/261250
- This record as JSON: /data/d/261250.json