Heimler syndrome is a rare autosomal recessive condition characterized by sensorineural hearing loss, amelogenesis imperfecta, nail abnormalities and occasional or late-onset retinal pigmentation This condition is characterised by sensorineural hearing loss, enamel hypoplasia of the secondary dentition, nail abnormalities and occasional or late-onset retinal pigmentation abnormalities.

They form part of the mechanism that shuttles the peroxisome targeting signal receptor protein PEX5 back to the cytosol after release of its protein cargo within the peroxisomal lumen.

[citation needed] The diagnosis is made on clinical grounds and confirmed by gene sequencing.

[citation needed] This condition tends to produce only mild abnormalities.

Precise estimates of its prevalence are not known but it appears be to be < 1/106[citation needed] This condition was first described in 1991.