Zellweger-like syndrome without peroxisomal anomalies

An extremely rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome, such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxysomal defects, however, have been reported. Transmission is thought to be autosomal recessive.

Also known as: AHN-Lerman-Sagie syndrome

13 clinical trials for this condition and its sub-types, 0 tagged with Zellweger-like syndrome without peroxisomal anomalies itself.