10q22.3q23.3 microdeletion syndrome
Synonyms: Del(10)(q22.3q23.3) · Deletion 10q22.3q23.3 · Monosomy 10q22.3q23.3
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip), cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 10q22.3q23.3 microdeletion syndrome | Del(10)(q22.3q23.3) · Deletion 10q22.3q23.3 · Monosomy 10q22.3q23.3 |
| fr | Syndrome de microdélétion 10q22.3q23.3 | Del(10)(q22.3q23.3) · Délétion 10q22.3q23.3 · Monosomie 10q22.3q23.3 |
| de | Mikrodeletionssyndrom 10q22.3q23.3 | Del(10)(q22.3q23.3) · Deletion 10q22.3q23.3 · Monosomie 10q22.3q23.3 |
| es | Síndrome de microdeleción 10q22.3q23.3 | Del(10)(q22.3q23.3) · Deleción 10q22.3q23.3 · Monosomía 10q22.3q23.3 |
| it | Sindrome da microdelezione 10q22.3q23.3 | Del(10)(q22.3q23.3) · Delezione 10q22.3q23.3 · Monosomia 10q22.3q23.3 |
| nl | 10q22.3q23.3-microdeletiesyndroom | Del(10)(q22.3q23.3) · Deletie 10q22.3q23.3 · Monosomie 10q22.3q23.3 |
| pt | Síndrome de microdeleção 10q22.3q23.3 | |
| pl | Zespół mikrodelecji 10q22.3q23.3 | Del(10)(q22.3q23.3) · Delecja 10q22.3q23.3 · Monosomia 10q22.3q23.3 |
| cs | Syndrom mikrodelece 10q22.3q23.3 | Del(10)(q22.3q23.3) · Delece 10q22.3q23.3 · Monozomie 10q22.3q23.3 |
| uk | Синдром мікроделеції 10q22.3q23.3 | Del(10)(q22.3q23.3) · Делеція 10q22.3q23.3 · Моносомія 10q22.3q23.3 |
| zh | 10q22.3q23.3微缺失综合征 | 10q22.3q23.3单体 |
| tr | 10q22.3q23.3 mikrodelesyon sendromu | Del(10)(q22.3q23.3) · Delesyon 10q22.3q23.3 · Monozomi 10q22.3q23.3 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612242 | E | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.A0 | NTBT | index | validated |
| MONDO | 0012830 | E | validated | |
| MONDO | 12830 | E | validated | |
| UMLS | C4749270 | 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 (1):
- ORPHA:262083Partial deletion of the long arm of chromosome 10 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
30 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| HP:0002463 | Language impairment | |
| HP:0000256 | Macrocephaly | |
| Frequent (79-30%) | ||
| HP:0005280 | Depressed nasal bridge | |
| HP:0000316 | Hypertelorism | |
| HP:0000369 | Low-set ears | |
| Occasional (29-5%) | ||
| HP:0000463 | Anteverted nares | |
| HP:0001166 | Arachnodactyly | |
| HP:0006695 | Atrioventricular canal defect | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000717 | Autism | |
| HP:0100783 | Breast aplasia | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0002308 | Chiari malformation | |
| HP:0100444 | Curved middle phalanx of the 4th toe | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000286 | Epicanthus | |
| HP:0001508 | Failure to thrive | |
| HP:0002007 | Frontal bossing | |
| HP:0000601 | Hypotelorism | |
| HP:0200008 | Intestinal polyposis | |
| HP:0001382 | Joint hypermobility | |
| HP:0000252 | Microcephaly | |
| HP:0000308 | Microretrognathia | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0001250 | Seizure | |
| HP:0001883 | Talipes | |
| HP:0001704 | Tricuspid valve prolapse | |
| HP:0000582 | Upslanted palpebral fissure | |
Run the differential on the 4 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/276413
- This record as JSON: /data/d/276413.json