What does WZS mean in PHYSIOLOGY

Weissenbacher- Zweymuller Syndrome (WZS) is a rare congenital disorder that can cause physical and developmental disabilities. It is characterized by reduced muscle tone, abnormal facial features, skeletal and joint deformities, as well as intellectual disability.

The most common symptoms associated with WZS are motor and developmental delays, low muscle tone, joint abnormalities, short stature, small head size (microcephaly), speech impairments, intellectual disability and/or learning difficulties. Additional signs and symptoms vary greatly from person to person but may include hypotonia (abnormally low muscle tone), webbing between fingers or toes (syndactyly), heart defects, cleft palate or lip, seizures and hearing impairments.

WZS can be diagnosed prenatally using ultrasound examinations or postnatally through physical examination results indicating specific anomalies typical of the condition. A definitive diagnosis can be made through molecular genetic testing if a mutation in the TRAPPC2 gene is detected.

WZS is caused by mutations in the TRAPPC2 gene which plays an important role in regulating cellular membranes. An individual must possess two mutated copies of this gene to develop WZS. This condition is inherited in an autosomal recessive manner.

Although there is currently no cure for WZS, treatment focuses on managing its symptoms by controlling any associated conditions such as seizures or developmental disabilities with medications or therapy; correcting any physical deformities with orthopedic surgery if necessary; and providing emotional support for affected individuals and their families throughout each stage of development.

Because it requires two mutated copies of the TRAPPC2 gene to develop WZS, anyone with a family history of the disorder may be at risk for carrying one mutated copy and passing it on to their children. Each child has a 25% chance of inheriting the condition from their parents if both parents carry one mutated copy of the TRAPPC2 gene.

Unfortunately, there isn't a way to prevent this genetic disorder from occurring; however people should consider genetic counseling prior to pregnancy in order to better understand their risk factors for having children with this syndrome. Those who have a family history of WZS can also opt for prenatal testing.

Yes! Medical research into this rare disorder has been ongoing since its discovery in 2001. Ongoing research aims to better understand how the mutation impacts growth development and other related aspects that may lead to further treatments or interventions that could benefit those living with WZS.

Yes! Support groups exist worldwide offering advice and assistance to families whose lives have been impacted by WZS. These groups typically provide educational information about living with this rare disorder as well as emotional support for caregivers who are assisting those affected.