Oliver syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
POSTAXIAL POLYDACTYLY AND MENTAL RETARDATION Postaxial polydactyly - intellectual deficit |
| Number of Symptoms | 22 |
| OrphanetNr: | 2920 |
| OMIM Id: |
258200
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| ICD-10: |
Q87.2 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
-Rare developmental defect during embryogenesis -Rare genetic disease Rare genetic intellectual deficit with developmental anomaly -Rare genetic disease Rare intellectual deficit with developmental anomaly -Rare neurologic disease Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy -Rare bone disease -Rare developmental defect during embryogenesis |
Symptom Information:
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(HPO:0002705) | High, narrow palate | Very frequent [Orphanet] | 308 / 7739 | |||
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(HPO:0000322) | Short philtrum | Occasional [Orphanet] | 130 / 7739 | |||
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(HPO:0000574) | Thick eyebrow | Frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0000689) | Dental malocclusion | Frequent [Orphanet] | 114 / 7739 | |||
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(HPO:0000277) | Abnormality of the mandible | Very frequent [Orphanet] | 394 / 7739 | |||
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(HPO:0009906) | Aplasia/Hypoplasia of the earlobes | Frequent [Orphanet] | 41 / 7739 | |||
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(HPO:0001250) | Seizures | Very frequent [Orphanet] | 1245 / 7739 | |||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0002558) | Supernumerary nipple | Occasional [Orphanet] | 40 / 7739 | |||
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(HPO:0002650) | Scoliosis | Occasional [Orphanet] | 705 / 7739 | |||
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(HPO:0100259) | Postaxial polydactyly | 85 / 7739 | ||||
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(HPO:0006101) | Finger syndactyly | Frequent [Orphanet] | 198 / 7739 | |||
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(HPO:0004209) | Clinodactyly of the 5th finger | Frequent [Orphanet] | 288 / 7739 | |||
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(HPO:0009700) | Finger symphalangism | Occasional [Orphanet] | 55 / 7739 | |||
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(HPO:0006494) | Aplasia/Hypoplasia involving bones of the feet | Frequent [Orphanet] | 69 / 7739 | |||
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(HPO:0001830) | Postaxial foot polydactyly | Frequent [Orphanet] | 37 / 7739 | |||
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(HPO:0100490) | Camptodactyly of finger | Frequent [Orphanet] | 212 / 7739 | |||
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(HPO:0001162) | Postaxial hand polydactyly | Very frequent [Orphanet] | 119 / 7739 | |||
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(HPO:0100555) | Asymmetric growth | Frequent [Orphanet] | 25 / 7739 | |||
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(HPO:0001511) | Intrauterine growth retardation | Occasional [Orphanet] | 358 / 7739 | |||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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