Ring chromosome 7 syndrome
Synonyms: Ring 7 · Ring chromosome 7
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
Ring chromosome 7 syndrome is a rare chromosomal anomaly syndrome, with highly variable phenotype, principally characterized by growth failure, short stature, intellectual disability, dermatological abnormalities (nevus flammeus, dark pigmented nevi, café-au-lait spots), microcephaly and facial dysmorphism (incl. facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (i.e. cryptorchidism, hypospadias, micropenis).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ring chromosome 7 syndrome | Ring 7 · Ring chromosome 7 |
| fr | Syndrome du chromosome 7 en anneau | Chromosome 7 en anneau |
| de | Ringchromosom-7-Syndrom | Ringchromosom 7 |
| es | Síndrome del cromosoma 7 en anillo | Anillo 7 · Cromosoma 7 en anillo |
| it | Cromosoma 7 ad anello | |
| nl | Ringchromosoom 7-syndroom | Ring 7 · Ringchromosoom 7 |
| pt | Síndrome de cromossoma 7 em anel | Anel do cromossoma 7 |
| pl | Chromosom pierścieniowy 7 | = en |
| cs | Ring chromozom 7 | = en |
| uk | Синдром кільцевої хромосоми 7 | Кільце 7 · Кільцева хромосома 7 |
| zh | 7号环状染色体综合征 | 7号环状染色体 |
| tr | Halka kromozom 7 sendromu | Ring 7 · Halka kromozomu 7 |
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 | 0015441 | E | validated | |
| MeSH | C537813 | E | validated | |
| UMLS | C0795818 | E | validated | |
| GARD | 1345 | 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 | 18 cases | Worldwide | Case(s) | Validated | 23509645[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23509645[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
58 annotations · validated 2017-06-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000271 | Abnormality of the face | |
| HP:0000932 | Abnormality of the posterior cranial fossa | |
| HP:0001488 | Bilateral ptosis | |
| HP:0000248 | Brachycephaly | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000286 | Epicanthus | |
| HP:0012368 | Flat face | |
| HP:0004425 | Flat forehead | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0000135 | Hypogonadism | |
| HP:0000047 | Hypospadias | |
| HP:0000601 | Hypotelorism | |
| HP:0000294 | Low anterior hairline | |
| HP:0000272 | Malar flattening | |
| HP:0000252 | Microcephaly | |
| HP:0001270 | Motor delay | |
| HP:0000160 | Narrow mouth | |
| HP:0009899 | Prominent crus of helix | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0011344 | Severe global developmental delay | |
| HP:0008846 | Severe intrauterine growth retardation | |
| HP:0000322 | Short philtrum | |
| HP:0004322 | Short stature | |
| HP:0000385 | Small earlobe | |
| HP:0009088 | Speech articulation difficulties | |
| HP:0000233 | Thin vermilion border | |
| HP:0007687 | Unilateral ptosis | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0001000 | Abnormality of skin pigmentation | |
| HP:0030148 | Heart murmur | |
| HP:0009933 | Narrow naris | |
| HP:0003196 | Short nose | |
| HP:0001238 | Slender finger | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0001317 | Abnormal cerebellum morphology | |
| HP:0000463 | Anteverted nares | |
| HP:0000957 | Cafe-au-lait spot | |
| HP:0000175 | Cleft palate | |
| HP:0000565 | Esotropia | |
| HP:0000329 | Facial hemangioma | |
| HP:0002857 | Genu valgum | |
| HP:0000034 | Hydrocele testis | |
| HP:0007481 | Hyperpigmented nevi | |
| HP:0004619 | Lumbar kyphoscoliosis | |
| HP:0000303 | Mandibular prognathia | |
| HP:0002861 | Melanoma | |
| HP:0000954 | Single transverse palmar crease | |
| HP:0200055 | Small hand | |
| HP:0000486 | Strabismus | |
| Very rare (<4-1%) | ||
| HP:0009779 | 3-4 toe syndactyly | |
| HP:0000193 | Bifid uvula | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0001360 | Holoprosencephaly | |
| HP:0009099 | Median cleft palate | |
| HP:0001357 | Plagiocephaly | |
| HP:0009237 | Short 5th finger | |
| HP:0001696 | Situs inversus totalis | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 15337469[PMID]_15580634[PMID]_21303521[PMID]_2395166[PMID]_23509645[PMID]_24677512[PMID]_26669311[PMID]_10905891[PMID]_10797441[PMID]_8362903[PMID]_8428052[PMID]_1746606[PMID]_4145271[PMID]_7172483[PMID]_6705244[PMID]_3150243[PMID]_2189730[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1449
- This record as JSON: /data/d/1449.json