Ring chromosome 16 syndrome
Synonyms: Ring 16 · Ring chromosome 16
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare chromosomal anomaly syndrome, resulting from the partial deletion of chromosome 16, characterized by pre- and postnatal growth delay, severe developmental delay, intellectual disability, speech delay, and craniofacial dysmorphism (e.g. microcephaly, hypertelorism, downslanted palpebral fissures, ptosis, telecantus, low set and dysmorphic ears, broad flat nasal bridge, down-turned mouth corners, high palate, retrognathia). Patients may also present congenital cataract, mild synophrys, hypotonia, and poor social contact. Congenital heart anomalies (e.g. ventricular septal defect, patent ductus arteriosus) have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ring chromosome 16 syndrome | Ring 16 · Ring chromosome 16 |
| fr | Syndrome du chromosome 16 en anneau | Chromosome 16 en anneau |
| de | Ringchromosom-16-Syndrom | Ringchromosom 16 |
| es | Síndrome del cromosoma 16 en anillo | Anillo 16 · Cromosoma 16 en anillo |
| it | Cromosoma 16 ad anello | |
| nl | Ringchromosoom 16-syndroom | Ringchromosoom 16 · Ring 16 |
| pt | Cromossoma 16 em anel | |
| pl | Chromosom pierścieniowy 16 | = en |
| cs | Ring chromozom 16 | Kruhový chromozom 16 |
| uk | Синдром кільцевої хромосоми 16 | Кільце 16 · Кільцева хромосома 16 |
| zh | 16号环状染色体综合征 | 16号环状染色体 |
| tr | Halka kromozom 16 sendromu | Halka 16 · Halka kromozomu 16 |
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 | attributed | validated |
| MONDO | 0019909 | E | validated | |
| UMLS | C4706449 | E | validated | |
| GARD | 10855 | 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
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | 23705081[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23705081[PMID] |
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
19 annotations · validated 2025-10-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000750 | Delayed speech and language development | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0001249 | Intellectual disability | |
| HP:0000369 | Low-set ears | |
| HP:0000252 | Microcephaly | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0000729 | Autistic behavior | |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0001263 | Global developmental delay | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0000347 | Micrognathia | |
| HP:0001250 | Seizure | |
| HP:0000322 | Short philtrum | |
| HP:0000664 | Synophrys | |
| HP:0001762 | Talipes equinovarus | |
| HP:0000506 | Telecanthus | |
| Very rare (<4-1%) | ||
| HP:0004812 | B Acute Lymphoblastic Leukemia | |
Annotation source: 18503834[PMID]_23705081[PMID]_9137886[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/96178
- This record as JSON: /data/d/96178.json