This is a complex hereditary condition consisting of at least 5 types caused by mutations in genes. The clinical signs are highly variable, even among sibs of the same family, but most individuals have a combination of hearing loss with various neurological problems affecting limb movements and maintaining balance. Females have underperforming ovaries.
Individuals with hearing loss and various malfunctions of the nervous system may have this syndrome which in females has the additional feature of ovarian dysfunction. Physical growth is often delayed and some mental limitations may be present including learning difficulties, cognitive delays, limb weakness, unsteadiness, and, in some individuals, mental retardation. Sensation is sometimes altered as well. Seizures seem to occur only rarely.
A few patients have limited eye movements when looking around and the eyelids appear to droop. Decreased vision has also been reported.
Both autosomal recessive and autosomal dominant patterns of inheritance occur among the 5 types of Perrault syndrome. Parents of recessive cases can expect a recurrence rate of 25% among future children whereas the risk is 50% in dominant cases but few individuals are capable of reproduction.
The diagnosis of Perrault syndrome is usually suspected some by one year of age when infants fail to achieve normal milestones. Pediatricians and neurologists are likely to make the diagnosis. Brain scans may be needed to document abnormalities such as a small cerebellum. There is no known treatment of the neurological problems and the impact on longevity is unknown.