Ring chromosome 21 syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
Ring chromosome 21 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including growth retardation, developmental delay, intellectual disability, epilepsy, microcephaly, short stature, dysmorphic features, hypogammaglobulinemia, thrombocytopenia and unspecific skeletal anomalies (hemivertebrae, clinodactyly, syndactyly). In rare cases, it has been described in phenotypically normal individuals.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ring chromosome 21 syndrome | |
| fr | Syndrome du chromosome 21 en anneau | |
| de | Ringchromosom 21-Syndrom | Ringchromosom 21 |
| es | Síndrome del cromosoma 21 en anillo | Anillo 21 · Cromosoma 21 en anillo |
| it | Cromosoma 21 ad anello | |
| nl | Ringchromosoom 21-syndroom | Ring 21 · Ringchromosoom 21 |
| pt | Síndrome de cromossoma 21 em anel | Anel do cromossoma 21 |
| pl | Chromosom pierścieniowy 21 | |
| cs | Ring chromozom 21 | |
| uk | Синдром кільцевої хромосоми 21 | |
| zh | 环状21号染色体综合征 | 环状21号染色体 |
| tr | Halka kromozom 21 sendromu | Halka 21 · Halka kromozomu 21 · Kromozom 21 ek |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q93.2 | NTBT | attributed | validated |
| ICD-11 | LD7Y | NTBT | index | validated |
| MONDO | 0015437 | E | validated | |
| MeSH | C537109 | E | validated | |
| UMLS | C0265487 | E | validated | |
| GARD | 6083 | 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:363203Ring chromosome 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 | 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 2020-12-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| Frequent (79-30%) | ||
| HP:0000141 | Amenorrhea | |
| HP:0002353 | EEG abnormality | |
| HP:0001263 | Global developmental delay | |
| HP:0000789 | Infertility | |
| HP:0001249 | Intellectual disability | |
| HP:0000252 | Microcephaly | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0000765 | Abnormal thorax morphology | |
| HP:0000027 | Azoospermia | |
| HP:0025190 | Bilateral tonic-clonic seizure with generalized onset | |
| HP:0030084 | Clinodactyly | |
| HP:0000992 | Cutaneous photosensitivity | |
| HP:0004313 | Decreased circulating antibody level | |
| HP:0000750 | Delayed speech and language development | |
| HP:0000873 | Diabetes insipidus | |
| HP:0030039 | Fused thoracic vertebrae | |
| HP:0001288 | Gait disturbance | |
| HP:0002123 | Generalized myoclonic seizure | |
| HP:0001360 | Holoprosencephaly | |
| HP:0007565 | Multiple cafe-au-lait spots | |
| HP:0004283 | Narrow palm | |
| HP:0002650 | Scoliosis | |
| HP:0004322 | Short stature | |
| HP:0011171 | Simple febrile seizure | |
| HP:0200055 | Small hand | |
| HP:0001257 | Spasticity | |
| HP:0001159 | Syndactyly | |
| HP:0008467 | Thoracic hemivertebrae | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 21595005[PMID]_29492108[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1445
- This record as JSON: /data/d/1445.json