ORPHA:251046
6p22 microdeletion syndrome
Synonyms: Del(6)(p22) · Monosomy 6p22
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 6p22 microdeletion syndrome | Del(6)(p22) · Monosomy 6p22 |
| fr | Syndrome de microdélétion 6p22 | Del(6)(p22) · Monosomie 6p22 |
| de | Mikrodeletionssyndrom 6p22 | Del(6)(p22) · Monosomie 6p22 |
| es | Síndrome de microdeleción 6p22 | Del(6)(p22) · Monosomía 6p22 |
| it | Sindrome da microdelezione 6p22 | Del(6)(p22) · Monosomia 6p22 |
| nl | 6p22-microdeletiesyndroom | Del(6)(p22) · Monosomie 6p22 |
| pt | Síndrome de microdeleção 6p22 | Monossomia 6p22 |
| pl | Zespół mikrodelecji 6p22 | Del(6)(p22) · Monosomia 6p22 |
| cs | Syndrom mikrodelece 6p22 | Del(6)(p22) · Monozomie 6p22 |
| uk | Синдром мікроделеції 6p22 | Del(6)(p22) · Моносомія 6p22 |
| zh | 染色体6p22微缺失综合征 | 6p22单体 |
| tr | 6p22 mikrodelesyon sendromu | Del (6) (s22) · Monozomi 6p22 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.61 | NTBT | index | validated |
| MONDO | 0016655 | E | validated | |
| UMLS | C4304528 | 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:261902Partial deletion of the short arm of chromosome 6 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 | 19 cases | Worldwide | Case(s) | Validated | 23294540[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
21 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000929 | Abnormal skull morphology | |
| HP:0001252 | Hypotonia | |
| HP:0001256 | Intellectual disability, mild | |
| Frequent (79-30%) | ||
| HP:0012639 | Abnormal nervous system morphology | |
| HP:0030084 | Clinodactyly | |
| HP:0000490 | Deeply set eye | |
| HP:0000286 | Epicanthus | |
| HP:0006101 | Finger syndactyly | |
| HP:0100790 | Hernia | |
| HP:0000238 | Hydrocephalus | |
| HP:0000126 | Hydronephrosis | |
| HP:0000369 | Low-set ears | |
| HP:0000396 | Overfolded helix | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0000470 | Short neck | |
| HP:0000486 | Strabismus | |
| Occasional (29-5%) | ||
| HP:0000174 | Abnormal palate morphology | |
| HP:0000078 | Abnormality of the genital system | |
| HP:0000365 | Hearing impairment | |
| HP:0000601 | Hypotelorism | |
| HP:0001582 | Redundant skin | |
Run the differential on the 3 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/251046
- This record as JSON: /data/d/251046.json