8q21.11 microdeletion syndrome
Synonyms: Del(8)(q21.11) · Deletion 8q21.11 · Monosomy 8q21.11
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 8q21.11 microdeletion syndrome | Del(8)(q21.11) · Deletion 8q21.11 · Monosomy 8q21.11 |
| fr | Syndrome de microdélétion 8q21.11 | Del(8)(q21.11) · Délétion 8q21.11 · Monosomie 8q21.11 |
| de | Mikrodeletionssyndrom 8q21.11 | Del(8)(q21.11) · Deletion 8q21.11 · Monosomie 8q21.11 |
| es | Síndrome de microdeleción 8q21.11 | Del(8)(q21.11) · Deleción 8q21.11 · Monosomía 8q21.11 |
| it | Sindrome da microdelezione 8q21.11 | Del(8)(q21.11) · Delezione 8q21.11 · Monosomia 8q21.11 |
| nl | 8q21.11-microdeletiesyndroom | Del(8)(q21.11) · Deletie 8q21.11 · Monosomie 8q21.11 |
| pt | Síndrome de microdeleção 8q21.11 | |
| pl | Zespół mikrodelecji 8q21.11 | Del(8)(q21.11) · Delecja 8q21.11 · Monosomia 8q21.11 |
| cs | Mikrodeleční syndrom 8q21.11 | Del(8)(q21.11) · Delece 8q21.11 · Monozomie 8q21.11 |
| uk | Синдром мікроделеції 8q21.11 | Del(8)(q21.11) · Делеція 8q21.11 · Моносомія 8q21.11 |
| zh | 8q21.11微缺失综合征 | 8q21.11单体 |
| tr | 8q21.11 mikrodelesyon sendromu | Del(8)(q21.11) · Delesyon 8q21.11 · Monozomi 8q21.11 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614230 | E | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.80 | NTBT | index | validated |
| MONDO | 0013646 | E | validated | |
| UMLS | C4305343 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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:262065Partial deletion of the long arm of chromosome 8 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:238766Ptosis-syndactyly-learning difficulties syndrome moved to · inactive
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 13 cases | Worldwide | Case(s) | Validated | 21802062[PMID]_[EXPERT] | |
| 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.
HPO phenotypes
39 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0002263 | Exaggerated cupid's bow | |
| HP:0000293 | Full cheeks | |
| HP:0000365 | Hearing impairment | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0000369 | Low-set ears | |
| HP:0000508 | Ptosis | |
| HP:0000311 | Round face | |
| HP:0000322 | Short philtrum | |
| Frequent (79-30%) | ||
| HP:0010489 | Absent palmar crease | |
| HP:0000581 | Blepharophimosis | |
| HP:0007957 | Corneal opacity | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000348 | High forehead | |
| HP:0001611 | Hypernasal speech | |
| HP:0000347 | Micrognathia | |
| HP:0000647 | Sclerocornea | |
| HP:0000470 | Short neck | |
| HP:0000486 | Strabismus | |
| HP:0000430 | Underdeveloped nasal alae | |
| HP:0000445 | Wide nose | |
| Occasional (29-5%) | ||
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0004408 | Abnormality of the sense of smell | |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0000518 | Cataract | |
| HP:0000028 | Cryptorchidism | |
| HP:0000964 | Eczematoid dermatitis | |
| HP:0000286 | Epicanthus | |
| HP:0006101 | Finger syndactyly | |
| HP:0000218 | High palate | |
| HP:0000316 | Hypertelorism | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0007730 | Iris hypopigmentation | |
| HP:0000568 | Microphthalmia | |
| HP:0000160 | Narrow mouth | |
Run the differential on the 11 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/284160
- This record as JSON: /data/d/284160.json