Oliver syndrome
Alternate names[edit | edit source]
Postaxial polydactyly-intellectual disability syndrome
Definition[edit | edit source]
Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy.
Epidemiology[edit | edit source]
To date, seven individuals in three families have been reported.
Inheritance[edit | edit source]
The condition is probably hereditary, and transmitted as an autosomal recessive trait.
Signs and symptoms[edit | edit source]
- Facial features are not characteristic except for a prominent jaw.
- Concordant features in all subjects are postaxial polydactyly, which in four individuals affect also the feet, and intellectual deficit, which is usually severe, with absent or indistinct speech.
- Seizures are common with onset in the first months of life or in early childhood.
- Cutaneous syndactyly, camptodactyly and clinodactyly of fingers and brachydactyly and syndactyly of the toes have been recorded.
Clinical presentation[edit | edit source]
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.
80%-99% of people have these symptoms
- Intellectual disability, profound(IQ less than 20)
- Postaxial hand polydactyly(Extra little finger)
30%-79% of people have these symptoms
- Absent speech(Absent speech development)
- Bilateral tonic-clonic seizure(Grand mal seizures)
- Cutaneous finger syndactyly(Webbed fingers)
- Mandibular prognathia(Big lower jaw)
- Poor speech
- Postaxial foot polydactyly(Extra toe attached near the little toe)
- Short toe(Short toes)
5%-29% of people have these symptoms
- Absent earlobe(Earlobe, absent)
- Camptodactyly of finger(Permanent flexion of the finger)
- Clinodactyly of the 5th finger(Permanent curving of the pinkie finger)
- Dental malocclusion(Bad bite)
- Elbow flexion contracture(Contractures of elbows)
- High palate(Elevated palate)
- Hyperconvex fingernails
- Intrauterine growth retardation(Prenatal growth deficiency)
- Knee flexion contracture
- Microcephaly(Abnormally small skull)
- Prominent fingertip pads(Prominent finger pads)
- Scoliosis
- Short philtrum
- Small earlobe(Small earlobes)
- Supernumerary nipple(Accessory nipple)
- Thick eyebrow(Bushy eyebrows)
Diagnosis[edit | edit source]
Treatment[edit | edit source]
NIH genetic and rare disease info[edit source]
Oliver syndrome is a rare disease.
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