What is Wieacker syndrome?
Intellectual disability-developmental delay-contractures syndrome is a rare, slowly progressive genetic disorder that is present at birth. It is characterized by contractures of the joints of the feet (arthrogryposis multiplex congenita), muscle degeneration (atrophy), mild intellectual disability and an impaired ability to move certain muscles of the eyes, face and tongue.
How common is Wieacker syndrome?
The prevalence of Wieacker syndrome is not known. Wieacker syndrome usually affects males, but some carrier females show mild manifestations of the disorder. As of 2015, the syndrome has been reported in 5 families. Please discuss with your doctor for further information.
What are the symptoms of Wieacker syndrome?
The common symptoms of Wieacker syndrome are:
- Muscle degeneration and joint contractures of the lower extremities
- Muscle atrophy of certain muscles of the hands and legs.
- Intellectual disability
- Certain ocular abnormality
- Ptosis and strabismus
Also, as a result of degeneration of the muscles of the face and tongue the affected individual may also find it difficult to move their face and tongue appropriately. Kyphoscoliosis is yet another symptom which is seen in individuals with Wieacker syndrome.
There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.
When should I see my doctor?
If you or your loved one has any signs or symptoms listed above or you have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.
What causes Wieacker syndrome?
Wieacker syndrome is caused due to mutation of ZC4H2 gene which is an X-linked disorder. This gene is extremely vital for the development of central and peripheral nervous system during the embryonic stage of the development of the fetus.
What increases my risk for Wieacker syndrome?
Wieacker syndrome condition follows an autosomal recessive pattern of inheritance meaning that two copies of the faulty gene one from each parent is essential for the development of Wieacker syndrome. Please consult with your doctor for further information.
Diagnosis & treatment
The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.
How is Wieacker syndrome diagnosed?
In some instances in the history of the family in which the syndrome was first described, the syndrome was present at birth.
How is Wieacker syndrome treated?
Treatment is symptomatic and supportive. The syndrome is little understood at this time.
Physical therapy, surgery, speech therapy, and special education can be of benefit, especially if started as early as possible.
Genetic counseling may be of benefit for the families of children with Wieacker syndrome.
Lifestyle changes & home remedies
What are some lifestyle changes or home remedies that can help me manage Wieacker syndrome?
If you have any questions, please consult with your doctor to better understand the best solution for you.
Hello Health Group does not provide medical advice, diagnosis or treatment.
Review Date: February 28, 2018 | Last Modified: December 8, 2019
Wieacker Syndrome https://rarediseases.org/rare-diseases/wieacker-syndrome/ Accessed February 28, 2018
Wieacker Syndrome: Causes, Symptoms, Treatment https://www.epainassist.com/genetic-disorders/wieacker-syndrome Accessed February 28, 2018