Cormier Rustin Munnich syndrome

Overview

Deficiency of certain chemicals involved in the respiratory chain can result in various malformation depending on the chemical involved and the degree of deficiency.

Symptoms

* Round face * High forehead * Flat philtrum * Low-set ears * Short neck

Causes

* 2-Hydroxyglutaricaciduria - cerebellar atrophy * 3 alpha methylglutaconicaciduria, type 3 - decreased brain function * 3-Hydroxyisobutyric aciduria - cerebral cortex atrophy * 6-pyruvoyl-tetrahydropterin synthase deficiency - brain damage * A ?-protein amyloidosis - stroke