ARTS syndrome

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Raviteja Guddeti, M.B.B.S. [2]

Overview

ARTS syndrome is an X linked PRPS1-related disorder. Females are carriers. Males inheriting the gene will be affected. Males with Arts syndrome do not reproduce.

Symptoms

ARTS syndrome is characterized by

• Profound congenital sensorineural hearing impairment,

• Early-onset hypotonia,

• Delayed motor development,

• Mild to moderate intellectual disability,

• Ataxia, and

• Increased risk of infection,

All these features (with the exception of optic atrophy) present before age two years. Signs of peripheral neuropathy develop during early childhood.

Treatment

• Educational programs

• Cochlear implants for hearing impairment

• Supportive therapy

Routine immunizations against common childhood infections and annual influenza immunization are necessary.

Regular neuropsychological, audiologic, and ophthalmologic examinations to be scheduled.