ORPHA:254346
19p13.12 microdeletion syndrome
Synonyms: Del(19)(p13.12) · Monosomy 19p13.12
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 19p13.12 microdeletion syndrome | Del(19)(p13.12) · Monosomy 19p13.12 |
| fr | Syndrome de microdélétion 19p13.12 | Del(19)(p13.12) · Monosomie 19p13.12 |
| de | Mikrodeletionssyndrom 19p13.12 | Del(19)(p13.12) · Monosomie 19p13.12 |
| es | Síndrome de microdeleción 19p13.12 | Del(19)(p13.12) · Monosomía 19p13.12 |
| it | Sindrome da microdelezione 19p13.12 | Del(19)(p13.12) · Monosomia 19p13.12 |
| nl | 19q13.12-microdeletiesyndroom | Del(19)(p13.12) · Monosomie 19p13.12 |
| pt | Síndrome de microdeleção 19q13.12 | Monossomia 19q13.12 |
| pl | Zespół mikrodelecji 19p13.12 | Del(19)(p13.12) · Monosomia 19p13.12 |
| cs | Syndrom mikrodelece 19p13.12 | Del(19)(p13.12) · Monozomie 19p13.12 |
| uk | Синдром мікроделеції 19p13.12 | Del(19)(p13.12) · Моносомія 19p13.12 |
| zh | 染色体19p13.12微缺失综合征 | 19p13.12单体 |
| tr | 19p13.12 mikrodelesyon sendromu | Del (19) (p13.12) · Monozomi 19p13.12 |
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.K1 | NTBT | index | validated |
| MONDO | 0016765 | E | validated | |
| UMLS | C4304579 | E | validated | |
| GARD | 10991 | 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:261983Partial deletion of the short arm of chromosome 19 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.
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 22419660[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22419660[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
55 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000750 | Delayed speech and language development | |
| HP:0001263 | Global developmental delay | |
| Frequent (79-30%) | ||
| HP:0000377 | Abnormal pinna morphology | |
| HP:0000463 | Anteverted nares | |
| HP:0011675 | Arrhythmia | |
| HP:0001631 | Atrial septal defect | |
| HP:0000248 | Brachycephaly | |
| HP:0000337 | Broad forehead | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000286 | Epicanthus | |
| HP:0000752 | Hyperactivity | |
| HP:0000668 | Hypodontia | |
| HP:0001252 | Hypotonia | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000369 | Low-set ears | |
| HP:0000252 | Microcephaly | |
| HP:0000446 | Narrow nasal bridge | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0000470 | Short neck | |
| HP:0004279 | Short palm | |
| HP:0000664 | Synophrys | |
| HP:0000233 | Thin vermilion border | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0001659 | Aortic regurgitation | |
| HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | |
| HP:0002804 | Arthrogryposis multiplex congenita | |
| HP:0000175 | Cleft palate | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0001363 | Craniosynostosis | |
| HP:0000028 | Cryptorchidism | |
| HP:0006191 | Deep palmar crease | |
| HP:0001869 | Deep plantar creases | |
| HP:0006101 | Finger syndactyly | |
| HP:0002230 | Generalized hirsutism | |
| HP:0001397 | Hepatic steatosis | |
| HP:0003077 | Hyperlipidemia | |
| HP:0000316 | Hypertelorism | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0000047 | Hypospadias | |
| HP:0000821 | Hypothyroidism | |
| HP:0002808 | Kyphosis | |
| HP:0000343 | Long philtrum | |
| HP:0001653 | Mitral regurgitation | |
| HP:0000545 | Myopia | |
| HP:0000639 | Nystagmus | |
| HP:0001513 | Obesity | |
| HP:0000826 | Precocious puberty | |
| HP:0000520 | Proptosis | |
| HP:0001852 | Sandal gap | |
| HP:0100716 | Self-injurious behavior | |
| HP:0000486 | Strabismus | |
| HP:0001863 | Toe clinodactyly | |
| HP:0001629 | Ventricular septal defect | |
Run the differential on the 2 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/254346
- This record as JSON: /data/d/254346.json