Heimler syndrome

Definition:

Heimler syndrome (HS) is a rare recessive disorder characterized by sensorineural hearing loss, amelogenesis imperfecta, nail abnormalities, and occasional or late-onset retinal pigmentation. It has been reported that HS is caused by hypomorphic mutations in the peroxisome biogenesis genes PEX1 and PEX6. HS is considered the mildest end of Zellweger syndrome spectrum disorders.

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