Wieacker-wolff syndrome | About the Disease | GARD Wieacker-wolff syndrome is caused by genetic mutations, also known as pathogenic variants Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing
Wieacker syndrome - Wikipedia Wieacker syndrome First being described and identified in 1985, Wieacker-Wolff syndrome is a rare, slowly progressive, genetic disorder present at birth and characterized by deformities of the joints of the feet, muscle degeneration, mild intellectual disability and an impaired ability to move certain muscles of the eyes, face and tongue [1]
Entry - #314580 - WIEACKER-WOLFF SYNDROME; WRWF - OMIM Wieacker-Wolff syndrome (WRWF) is a severe X-linked recessive neurodevelopmental disorder affecting the central and peripheral nervous systems It is characterized by onset of muscle weakness in utero (fetal akinesia), which results in arthrogryposis multiplex congenita (AMC) apparent at birth
What is ZARD - ZC4H2 Foundation ZC4H2 Associated Rare Disorders or ZARD, is an ultra-rare genetic condition with neurologic and neuromuscular involvement It is caused by mutations (pathogenic variants) of the ZC4H2 gene The ZC4H2 gene encodes (“produces”) the ZC4H2 protein which is essential for normal development
ZC4H2-Associated Rare Disorders (ZARD) A 7-year old female with arthrogryposis multiplex congenita, Duane retraction syndrome, and Marcus Gunn phenomenon due to a ZC4H2 gene mutation: a clinical presentation of the Wieacker-Wolff syndrome
Wieacker-Wolff Syndrome - MalaCards Wieacker-Wolff syndrome (WRWF) is a severe X-linked recessive neurodevelopmental disorder affecting the central and peripheral nervous systems It is characterized by onset of muscle weakness in utero (fetal akinesia), which results in arthrogryposis multiplex congenita (AMC) apparent at birth
Condition Wieacker-wolff Syndrome What is wieacker-wolff syndrome? Wieacker syndrome is a rare, slowly progressive, genetic disorder characterized by deformities of the joints of the feet (contracture), muscle degeneration (atrophy), mild mental retardation and an impaired ability to move certain muscles of the eyes, face and tongue