21q deletion syndrome
Synonyms: 21q- syndrome · Partial 21q monosomy
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 21q deletion syndrome | 21q- syndrome · Partial 21q monosomy |
| fr | Syndrome de délétion 21q | Monosomie 21q partielle · Syndrome 21q |
| de | 21q-Deletionssyndrom | 21q-Syndrom · Monosomie 21q, partielle |
| es | Síndrome de deleción 21q | Monosomía parcial 21q · Síndrome 21q- |
| it | Sindrome da delezione 21q | Monosomia 21q parziale · Sindrome 21q- |
| nl | 21q-deletiesyndroom | 21q-syndroom · Partiële 21q-monosomie |
| pt | Síndrome de deleção 21q | Síndrome 21q- · Monossomia parcial 21q |
| pl | Monosomia 21 | Częściowa monosomia 21q · Zespół 21q · Zespół delecji 21q |
| cs | Monozomie 21 | Syndrom delece 21q · Syndrom 21q- · Parciální monozomie 21q |
| uk | Синдром делеції 21q | 21q-синдром · Часткова 21q моносомія |
| zh | 21单体 | 21号染色体长臂单体缺失综合征 |
| tr | Monozomi 21 | 21q- sendromu · Kısmi 21q monozomi · 21q delesyon sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q93.0 | NTBT | attributed | validated |
| ICD-11 | LD44.M | NTBT | index | validated |
| MONDO | 0018930 | E | validated | |
| MeSH | C537108 | E | validated | |
| UMLS | C0795876 | E | validated | |
| GARD | 10860 | 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 (2):
- ORPHA:98642Chromosomal anomaly with cataract
rare genetic diseases; rare ophthalmic disorders - ORPHA:262173Partial deletion of the long arm of chromosome 21 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 50 cases | Worldwide | Case(s) | Validated | [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
26 annotations · validated 2024-11-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001531 | Failure to thrive in infancy | |
| Frequent (79-30%) | ||
| HP:0001903 | Anemia | |
| HP:0001631 | Atrial septal defect | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000286 | Epicanthus | |
| HP:0001263 | Global developmental delay | |
| HP:0000218 | High palate | |
| HP:0001249 | Intellectual disability | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000294 | Low anterior hairline | |
| HP:0000369 | Low-set ears | |
| HP:0000308 | Microretrognathia | |
| HP:0000341 | Narrow forehead | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0002719 | Recurrent infections | |
| HP:0005484 | Secondary microcephaly | |
| HP:0001873 | Thrombocytopenia | |
| Occasional (29-5%) | ||
| HP:0001273 | Abnormal corpus callosum morphology | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0000316 | Hypertelorism | |
| HP:0000343 | Long philtrum | |
| HP:0002623 | Overriding aorta | |
| HP:0001250 | Seizure | |
| HP:0001629 | Ventricular septal defect | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 22985727[PMID]_34889506[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/574
- This record as JSON: /data/d/574.json