Reardon Wilson Cavanagh syndrome

Other Names: Familial ataxia, deafness, and developmental delay; Ataxia, hearing loss, and mental retardation; Ataxia-deafness-retardation syndrome; ADR syndrome

This syndrome is characterised by progressive ataxia beginning during childhood, deafness and intellectual deficit.

Epidemiology

It has been described in two families.

Inheritance

X-linked recessive inheritance

Transmission may be X-linked recessive.

Signs and symptoms

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

• Ataxia
• Intellectual disability(Mental deficiency)
• Nystagmus(Involuntary, rapid, rhythmic eye movements)
• Sensorineural hearing impairment
• Strabismus(Cross-eyed)

30%-79% of people have these symptoms

• Abnormal palate morphology(Abnormality of the palate)
• Aplasia/Hypoplasia of the cerebellum(Absent/small cerebellum)
• Cerebral cortical atrophy(Decrease in size of the outer layer of the brain due to loss of brain cells)
• Decreased nerve conduction velocity
• EMG abnormality
• Muscular hypotonia(Low or weak muscle tone)
• Neurological speech impairment(Speech disorder)
• Reduced tendon reflexes
• Scoliosis
• Skeletal muscle atrophy(Muscle degeneration)
• Ventriculomegaly

5%-29% of people have these symptoms

• Joint hyperflexibility(Joints move beyond expected range of motion)

Differential diagnosis

The clinical picture is similar to that seen in Richards-Rundle syndrome.

NIH genetic and rare disease info

• NIH info on Reardon Wilson Cavanagh syndrome

Reardon Wilson Cavanagh syndrome is a rare disease.