ORPHA:178303
8q22.1 microdeletion syndrome
Synonyms: Monosomy 8q22.1 · Nablus mask-like facial syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 8q22.1 microdeletion syndrome | Monosomy 8q22.1 · Nablus mask-like facial syndrome |
| fr | Microdélétion 8q22.1 | Monosomie 8q22.1 · Syndrome "Nablus mask-like facial" |
| de | Nablus mask-like facial-Syndrom | Mikrodeletionssyndrom 8q22.1 · Monosomie 8q22.1 |
| es | Síndrome de microdeleción 8q22.1 | Monosomía 8q22.1 · Sindrome facial similar a 'máscara de Nablus' |
| it | Sindrome da microdelezione 8q22.1 | Monosomia 8q22.1 · Sindrome maschera facciale di Nablus-simile |
| nl | 8q22.1-microdeletiesyndroom | Monosomie 8q22.1 · Nablus masker-achtig faciaal syndroom |
| pt | Síndrome de microdeleção 8q22.1 | Síndrome máscara facial de Nablus-like |
| pl | Zespół mikrodelecji 8q22.1 | Monosomia 8q22.1 · Zespół Nablus z maskowatą twarzą |
| cs | Mikrodeleční syndrom 8q22.1 | Monozomie 8q22.1 · Nábuluský syndrom škraboškovitého obličeje |
| uk | Синдром мікроделеції 8q22.1 | Моносомія 8q22.1 · Синдром обличчя, схожего на маску Наблуса |
| zh | 8q22.1微缺失综合征 | Nablus面具样面部综合征 |
| tr | 8q22.1 mikrodelesyon sendromu | Monozomi 8q22.1 · Nablus maske benzeri fasiyal sendrom |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608156 | E | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.80 | NTBT | index | validated |
| MONDO | 0011977 | E | validated | |
| MeSH | C536110 | E | validated | |
| UMLS | C1842464 | E | validated | |
| GARD | 4722 | 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:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:262065Partial deletion of the long arm of chromosome 8 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 | 6 cases | Worldwide | Case(s) | Validated | 22821852[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
32 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010720 | Abnormal hair pattern | |
| HP:0000377 | Abnormal pinna morphology | |
| HP:0009738 | Abnormality of the antihelix | |
| HP:0000581 | Blepharophimosis | |
| HP:0100024 | Conspicuously happy disposition | |
| HP:0000028 | Cryptorchidism | |
| HP:0000457 | Depressed nasal ridge | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0100679 | Lack of skin elasticity | |
| HP:0000343 | Long philtrum | |
| HP:0000369 | Low-set ears | |
| HP:0000298 | Mask-like facies | |
| HP:0010781 | Skin dimple | |
| HP:0045075 | Sparse eyebrow | |
| HP:0000506 | Telecanthus | |
| HP:0008577 | Underfolded helix | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0000164 | Abnormality of the dentition | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0001263 | Global developmental delay | |
| HP:0000135 | Hypogonadism | |
| HP:0000327 | Hypoplasia of the maxilla | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0000252 | Microcephaly | |
| HP:0001852 | Sandal gap | |
| HP:0000470 | Short neck | |
| HP:0006610 | Wide intermamillary distance | |
| Occasional (29-5%) | ||
| HP:0005288 | Abnormality of the nares | |
| HP:0001363 | Craniosynostosis | |
| HP:0006101 | Finger syndactyly | |
| HP:0000653 | Sparse eyelashes | |
| HP:0000176 | Submucous cleft hard palate | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/178303
- This record as JSON: /data/d/178303.json