ORPHA:1318
Campomelia, Cumming type
Synonyms: Cumming syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Campomelia, Cumming type | Cumming syndrome |
| fr | Campomélie type Cumming | Syndrome de Cumming |
| de | Kampomelie Typ Cumming | Cumming-Syndrom |
| es | Campomelia tipo Cumming | Síndrome de Cumming |
| it | Campomelia, tipo Cumming | Sindrome di Cumming |
| nl | Campomelie, Cumming-type | Syndroom van Cumming |
| pt | Campomelia, tipo Cumming | Síndrome Cumming |
| pl | Kampomelia typu Cumminga | = en |
| cs | Kampomelie, Cummingův typ | = en |
| uk | Кампомелія Каммінга | Синдром Каммінга |
| zh | 肢体弯曲Cumming型 | |
| tr | Campomelia, Cumming tipi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 211890 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD24.C | NTBT | index | validated |
| MONDO | 0008896 | E | validated | |
| MeSH | C537966 | E | validated | |
| UMLS | C1859371 | E | validated | |
| GARD | 1061 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:93439Campomelic dysplasia and related disorders
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 15754354[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_15754354[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.
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HPO phenotypes
27 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000772 | Abnormal rib morphology | |
| HP:0001732 | Abnormality of the pancreas | |
| HP:0006487 | Bowing of the long bones | |
| HP:0001156 | Brachydactyly | |
| HP:0000175 | Cleft palate | |
| HP:0100760 | Clubbing of toes | |
| HP:0000476 | Cystic hygroma | |
| HP:0001522 | Death in infancy | |
| HP:0000268 | Dolichocephaly | |
| HP:0002983 | Micromelia | |
| HP:0000003 | Multicystic kidney dysplasia | |
| HP:0005562 | Multiple renal cysts | |
| HP:0001562 | Oligohydramnios | |
| HP:0001737 | Pancreatic cysts | |
| HP:0007495 | Prematurely aged appearance | |
| HP:0002652 | Skeletal dysplasia | |
| Frequent (79-30%) | ||
| HP:0000765 | Abnormal thorax morphology | |
| HP:0100569 | Abnormally ossified vertebrae | |
| HP:0002240 | Hepatomegaly | |
| HP:0001789 | Hydrops fetalis | |
| HP:0002863 | Myelodysplasia | |
| HP:0010781 | Skin dimple | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0002242 | Abnormal intestine morphology | |
| HP:0008056 | Aplasia/Hypoplasia affecting the eye | |
| HP:0000280 | Coarse facial features | |
| HP:0001004 | Lymphedema | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1318
- This record as JSON: /data/d/1318.json