Ring chromosome 13 syndrome
Synonyms: Ring 13 · Ring chromosome 13
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Childhood, Infancy, Neonatal
- Status
- active
A rare chromosomal anomaly of chromosome 13 characterized by a widely variable phenotype (ranging from mild to severe) principally characterized by intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. upslanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies, and genital abnormalities. Additional features reported include behavioral problems, hearing and speech disorders, congenital heart defects, cerebral malformations, and anal atresia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ring chromosome 13 syndrome | Ring 13 · Ring chromosome 13 |
| fr | Syndrome du chromosome 13 en anneau | Chromosome 13 en anneau |
| de | Ringchromosom-13-Syndrom | Ringchromosom 13 |
| es | Síndrome del cromosoma 13 en anillo | Anillo 13 · Cromosoma 13 en anillo |
| it | Cromosoma 13 ad anello | |
| nl | Ringchromosoom 13-syndroom | Ring 13 · Ringchromosoom 13 |
| pt | Cromossoma 13 em anel | |
| pl | Chromosom pierścieniowy 13 | = en |
| cs | Ring chromozom 13 | Kruhový chromozom 13 |
| uk | Синдром кільцевої хромосоми 13 | Кільце 13 · Кільцева хромосома 13 |
| zh | 13号环状染色体综合征 | 13号环状染色体 |
| tr | Halka kromozom 13 sendromu | Halka 13 · Halka kromozomu 13 |
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 | 0019907 | E | validated | |
| MeSH | C538303 | E | validated | |
| UMLS | C0795847 | E | validated | |
| GARD | 6069 | 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:363203Ring chromosome syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:117573Syndromic anorectal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1.72 / 100 000 | United Kingdom | Value and class | Validated | 7129419[PMID] |
| 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
42 annotations · validated 2017-01-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0001510 | Growth delay | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000252 | Microcephaly | |
| Frequent (79-30%) | ||
| HP:0000062 | Ambiguous genitalia | |
| HP:0000463 | Anteverted nares | |
| HP:0005927 | Aplasia/hypoplasia involving bones of the hand | |
| HP:0000048 | Bifid scrotum | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000316 | Hypertelorism | |
| HP:0000047 | Hypospadias | |
| HP:0000400 | Macrotia | |
| HP:0000054 | Micropenis | |
| HP:0000832 | Primary hypothyroidism | |
| HP:0002652 | Skeletal dysplasia | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0012211 | Abnormal renal physiology | |
| HP:0001000 | Abnormality of skin pigmentation | |
| HP:0000676 | Abnormality of the incisor | |
| HP:0011301 | Absent foot | |
| HP:0001596 | Alopecia | |
| HP:0002023 | Anal atresia | |
| HP:0002323 | Anencephaly | |
| HP:0009601 | Aplasia/Hypoplasia of the thumb | |
| HP:0000717 | Autism | |
| HP:0000957 | Cafe-au-lait spot | |
| HP:0000286 | Epicanthus | |
| HP:0002007 | Frontal bossing | |
| HP:0001290 | Generalized hypotonia | |
| HP:0000218 | High palate | |
| HP:0000347 | Micrognathia | |
| HP:0030032 | Partial absence of foot | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000470 | Short neck | |
| HP:0000322 | Short philtrum | |
| HP:0000243 | Trigonocephaly | |
| HP:0100779 | Urogenital sinus anomaly | |
| Very rare (<4-1%) | ||
| HP:0000479 | Abnormal retinal morphology | |
| HP:0003256 | Abnormality of the coagulation cascade | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0005233 | Hypoplasia of the gallbladder | |
| HP:0009919 | Retinoblastoma | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 7129419[PMID]_9881566[PMID]_1277571[PMID]_7440241[PMID]_5303427[PMID]_11273829[PMID]_23431756[PMID]_9332662[PMID]_1433229[PMID]_25171325[PMID]_24932608[PMID]_25377780[PMID]_717293[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/96176
- This record as JSON: /data/d/96176.json