Oliver syndrome

Alternate names

Postaxial polydactyly-intellectual disability syndrome

Definition

Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy.

Epidemiology

To date, seven individuals in three families have been reported.

Inheritance

Autosomal recessive inheritance, a 25% chance

The condition is probably hereditary, and transmitted as an autosomal recessive trait.

Signs and symptoms

• 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

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)

NIH genetic and rare disease info

• NIH info on Oliver syndrome

Oliver syndrome is a rare disease.

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