Weissenbacher-Zweymuller Syndrome Katlin Reed Emily Parks September 28, 2009

Common Symptoms Enlarged liver Elevated Copper and iron levels Floppy baby- lack of muscle growth As a baby- Inability to move Unusual facial development Seizures Difficulty swallowing Major defects in early brain development Stomach bleeding kidney abnormalities

Causes Inherited as autosomal recessive traits Absence or reduction in peroxisomes

Location It is on Chromosome 12, but more specifically the PXR1 gene on chromosome 12 The PXR1 gene is a receptor found on peroxisomes

Diagnosis WZS is considered a renal disease so it affects all body systems So to diagnose, doctors observe the patient’s overall appearance ex: skin color, turgor, intactness, and texture. Eyes for periorbital edema and their vision. Motor skills: posture, gait. Muscle movement: motor function and over all strength. Mental Status: level of consciousness, orientation, and response to stimuli.

Flexibility

Advances in Medicine They cannot walk and grow like most children at an early age, but pediatricians can perform surgeries such as cleft palate. Therapy can improve a child’s speech, language, and physical troubles By the age of six, they should be developing normally

What are the chances of having a child with WZS? This disease is very rare and affects less than 200,000 in the U.S

Impact There can be a prenatal diagnosis of this disease, so families can be better prepared. In families that are well-prepared, a child can be enrolled in therapy and be developed as well as any other child by age five or six in most cases.

Bibliography ZWS, Gale Cenage Learning, syndrome-1?print=true Author: Aziza Chedrawi, MD, and Coauthor(s): Gary D Clark, MD, March 8, images