ORPHA:2876
PHAVER syndrome
Synonyms: Powell-Chandra-Saal syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare multiple congenital anomalies syndrome characterized by the association of limb pterygia, heart anomalies, autosomal recessive inheritance, vertebral defects, ear anomalies and radial defects.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | PHAVER syndrome | Powell-Chandra-Saal syndrome |
| fr | Syndrome PHAVER | Syndrome de Powell-Chandra-Saal |
| de | PHAVER-Syndrom | Powell-Chandra-Saal-Syndrom |
| es | Síndrome PHAVER | Síndrome de Powell-Chandra-Saal |
| it | Sindrome PHAVER | Sindrome di Powell-Chandra-Saal |
| nl | PHAVER-syndroom | Syndroom van Powell-Chandra-Saal |
| pt | Síndrome PHAVER | Síndrome Powell-Chandra-Saal |
| pl | Zespół PHAVER | Zespół Powella, Chandra i Saala |
| cs | PHAVER syndrom | Powellové-Chandraové-Saalův syndrom · Powell-Chandra-Saalův syndrom |
| uk | Синдром PHAVER | Синдром Пауелла-Чандри-Саала |
| zh | PHAVER综合征 | Powell-Chandra-Saal综合征 |
| tr | PHAVER sendromu | Powell-Chandra-Saal sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 261575 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0009859 | E | validated | |
| MeSH | C538357 | E | validated | |
| UMLS | C1849928 | E | validated | |
| GARD | 4465 | 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 (2):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis
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 | 2 cases | Worldwide | Case(s) | Validated | 8279476[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8279476[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
26 annotations · validated 2017-10-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0000772 | Abnormal rib morphology | |
| HP:0003316 | Butterfly vertebrae | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000369 | Low-set ears | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0001059 | Pterygium | |
| HP:0009465 | Ulnar deviation of finger | |
| Frequent (79-30%) | ||
| HP:0009906 | Aplasia/Hypoplasia of the earlobes | |
| HP:0010059 | Broad hallux phalanx | |
| HP:0011304 | Broad thumb | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0001680 | Coarctation of aorta | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000286 | Epicanthus | |
| HP:0012304 | Hypoplastic aortic arch | |
| HP:0001387 | Joint stiffness | |
| HP:0002475 | Myelomeningocele | |
| HP:0000396 | Overfolded helix | |
| HP:0004935 | Pulmonary artery atresia | |
| HP:0002974 | Radioulnar synostosis | |
| HP:0009778 | Short thumb | |
| HP:0001199 | Triphalangeal thumb | |
| HP:0001629 | Ventricular septal defect | |
Run the differential on the 8 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2876
- This record as JSON: /data/d/2876.json