Zellweger-like syndrome without peroxisomal anomalies

Zellweger-like syndrome without peroxisomal anomalies is an extremely rare mitochondrial disorder that has features similar to Zellweger syndrome. People with this condition may show facial differences such as a high forehead, frontal bossing, upslanting palpebral fissures, and epicanthal folds, as well as hypoplastic supraorbital ridges. Other features of the condition include pale skin, profound hypotonia (low muscle tone), developmental delay, and minor metabolic anomalies. It is important to note that, unlike Zellweger syndrome, no peroxisomal defects have been reported.

The signs and symptoms of this condition include distinctive facial features such as a high forehead, frontal bossing, upslanting palpebral fissures, and epicanthal folds. Additionally, people may show a lack of muscle tone (profound hypotonia), slower developmental progress, and minor metabolic anomalies.

The condition is thought to be inherited in an autosomal recessive manner. This means that two copies of the altered gene may be needed to have the disorder. No further genetic details are available at this time.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.