Oliver syndrome
historical
Synonyms: Postaxial polydactyly-intellectual disability syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability and postaxial polydactyly of the hands, and sometimes of the feet. Seizures are also common and usually manifest in the first months of life or in early childhood. Other clinical signs may include cutaneous syndactyly, camptodactyly and clinodactyly of fingers and brachydactyly and syndactyly of the toes. There have been no further descriptions in the literature since 1983.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Oliver syndrome | Postaxial polydactyly-intellectual disability syndrome |
| fr | Syndrome d'Oliver | Syndrome de polydactylie postaxiale-déficience intellectuelle |
| de | Oliver-Syndrom | Postaxiale Polydaktylie mit Intelligenzminderung |
| es | Síndrome de Oliver | Síndrome de polidactilia postaxial-discapacidad intelectual |
| it | Sindrome di Oliver | Sindrome polidattilia postassiale-disabilità intellettiva |
| nl | Syndroom van Oliver | Postaxiale polydactylie - intellectuele achterstand-syndroom |
| pt | Síndrome Oliver | Síndrome de polidactilia pós-axial-perturbação do desenvolvimento intelectual |
| pl | Zespół Olivera | Polidaktylia pozaosiowa - upośledzenie umysłowe |
| cs | Oliverův syndrom | Syndrom zahrnující postaxiální polydaktylii a mentální retardaci |
| uk | Синдром Олівера | Синдром постаксіальної полідактилії - інтелектуальної недостатності |
| zh | Oliver综合征 | 轴后多指（趾）-智力障碍综合征 |
| tr | Oliver Sendromu | Postaksiyal polidaktili-zihinsel yetersizlik sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 258200 | E | validated | |
| ICD-10 | Q87.2 | NTBT | attributed | validated |
| ICD-11 | LD26.2 | NTBT | index | validated |
| MONDO | 0009777 | E | validated | |
| MeSH | C564931 | E | validated | |
| UMLS | C1850320 | E | validated | |
| GARD | 4069 | 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 (3):
- 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 - ORPHA:294959Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone 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 | 7 cases | Worldwide | Case(s) | Validated | 16278897[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_16278897[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
25 annotations · validated 2019-03-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002187 | Intellectual disability, profound | |
| HP:0001162 | Postaxial hand polydactyly | |
| Frequent (79-30%) | ||
| HP:0001344 | Absent speech | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0010554 | Cutaneous finger syndactyly | |
| HP:0000303 | Mandibular prognathia | |
| HP:0002465 | Poor speech | |
| HP:0001830 | Postaxial foot polydactyly | |
| HP:0001831 | Short toe | |
| Occasional (29-5%) | ||
| HP:0000387 | Absent earlobe | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000689 | Dental malocclusion | |
| HP:0002987 | Elbow flexion contracture | |
| HP:0000218 | High palate | |
| HP:0001812 | Hyperconvex fingernails | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0006380 | Knee flexion contracture | |
| HP:0000252 | Microcephaly | |
| HP:0001212 | Prominent fingertip pads | |
| HP:0002650 | Scoliosis | |
| HP:0000322 | Short philtrum | |
| HP:0000385 | Small earlobe | |
| HP:0002558 | Supernumerary nipple | |
| HP:0000574 | Thick eyebrow | |
Annotation source: 16278897[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2920
- This record as JSON: /data/d/2920.json