Clinical features
Autosomal recessive mutations in the AP1B1 gene cause autosomal recessive keratitis-ichthyosis-deafness syndrome (KIDAR; MIM: #242150), which is characterized by neonatal-onset ichthyosis, erythroderma, and hearing loss with failure to thrive and global developmental delay in childhood. Laboratory abnormalities may include low plasma copper and ceruloplasmin levels. Other variable clinical features include enteropathy, variable facial dysmorphism, corneal scarring, and palmoplantar keratoderma.
Prevalence
The prevalence of KIDAR cannot be ascertained with precision due to the limited number of cases identified to date.
Inheritance
KIDAR is inherited in an autosomal recessive manner.