Ring chromosome 15 syndrome
Synonyms: Ring 15 · Ring chromosome 15
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare chromosomal anomaly syndrome, with a highly variable phenotype, characterized by pre- and/or postnatal growth retardation, variable intellectual disability, short stature, dysmorphic features (microcephaly, triangular facies, frontal bossing, hypertelorism, ear anomaly, broad nasal bridge, highly arched palate, micrognathism), hand and feet anomalies (e.g. brachydactyly, clinodactyly, syndactyly), and multiple hyperpigmented and/or hypopigmented spots. Severe phenotypes present with cardiac abnormalities and/or renal malformations. Other reported features include hypotonia, speech delay, talipes equinovarus, and genital anomalies (cryptorchidism and hypospadias).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ring chromosome 15 syndrome | Ring 15 · Ring chromosome 15 |
| fr | Syndrome du chromosome 15 en anneau | Chromosome 15 en anneau |
| de | Ringchromosom-15-Syndrom | Ringchromosom 15 |
| es | Síndrome del cromosoma 15 en anillo | Anillo 15 · Cromosoma 15 en anillo |
| it | Cromosoma 15 ad anello | |
| nl | Ringchromosoom 15-syndroom | Ring 15 · Ringchromosoom 15 |
| pt | Cromossoma 15 em anel | |
| pl | Chromosom pierścieniowy 15 | = en |
| cs | Ring chromozom 15 | Kruhový chromozom 15 |
| uk | Синдром кільцевої хромосоми 15 | Кільце 15. · Кільцева хромосома 15 |
| zh | 15号环状染色体综合征 | 15号环状染色体 |
| tr | Halka kromozom 15 sendromu | Halka 15 · Halka kromozomu 15 |
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 | 0019908 | E | validated | |
| MeSH | C538035 | E | validated | |
| UMLS | C0795855 | E | validated | |
| GARD | 1328 | 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 | 50 cases | Worldwide | Case(s) | Validated | 16267671[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_16267671[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
34 annotations · validated 2025-09-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0000119 | Abnormality of the genitourinary system | |
| HP:0003561 | Birth length less than 3rd percentile | |
| HP:0030084 | Clinodactyly | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0001263 | Global developmental delay | |
| HP:0001510 | Growth delay | |
| HP:0001249 | Intellectual disability | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000252 | Microcephaly | |
| HP:0001518 | Small for gestational age | |
| HP:0000325 | Triangular face | |
| Occasional (29-5%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0001156 | Brachydactyly | |
| HP:0000028 | Cryptorchidism | |
| HP:0000750 | Delayed speech and language development | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0002007 | Frontal bossing | |
| HP:0002705 | High, narrow palate | |
| HP:0000316 | Hypertelorism | |
| HP:0000047 | Hypospadias | |
| HP:0001252 | Hypotonia | |
| HP:0002808 | Kyphosis | |
| HP:0000347 | Micrognathia | |
| HP:0000798 | Oligozoospermia | |
| HP:0002650 | Scoliosis | |
| HP:0000954 | Single transverse palmar crease | |
| HP:0002360 | Sleep abnormality | |
| HP:0200055 | Small hand | |
| HP:0001328 | Specific learning disability | |
| HP:0000486 | Strabismus | |
| HP:0001762 | Talipes equinovarus | |
| HP:0000431 | Wide nasal bridge | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 34747577[PMID]_30442194[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/96177
- This record as JSON: /data/d/96177.json