Families

Perrault syndrome is an extremely rare inherited condition. Variants in PRORP is only one of many different genes that can result in this condition.
Over 100 individuals have been described to have this condition, but this is likely to be a significant under-estimate. The condition is caused when a child inherits a variant in the PRORP gene from each parent (this is called autosomal recessive inheritance). Affected individuals can have a wide range of health problems from hearing loss alone, to include infertility in some affected women and a very severe form that affects a child’s development.