Hyperoxaluria, also called Oxalosis, is a metabolic disorder caused by a defective liver enzyme. Hyperoxaluria usually leads to the build up of oxalate in tissues and organs and may eventually cause kidney failure. There are several different forms; most are genetic and some are aquired. The most common form, type 1, is inherited in an autosomal recessive manner and is due to mutations in the AGXT gene.
I met a family with branchio-oto-renal syndrome last week. It is cause by problems in fetal developlement of the branchial arch area of the face and the kidneys. Although signs vary, affected individuals may have kidney problems, malformed ears, hearing loss, cleft palate, facial paralysis, and gustatory lacrimation (crying during eating due to misdirection of salivation nerves). It is inherited in an autosommale dominant pattern.