"Weaver Syndrome" – What Is It?
Weaver syndrome is a disease caused by mutations, i.e., genetic changes in the EZH2 gene. A tall stature, a characteristic facial appearance, and variable intellectual impairment characterize it.
How Is "Weaver Syndrome" Diagnosed?
Suspected Diagnosis
Weaver syndrome is suspected if the following findings are present:
Clinically:
- Tall stature (≥97th percentile)
- Large head circumference (≥97th percentile)
- Intellectual impairment
- Characteristic shape of the face
- Backward displacement of the jaw (especially in children <3 years)
- Large, low-set ears (especially in children <3 years)
- Horizontal chin crease, sometimes with central dimple (especially in children <3 years)
- Round face (especially in children)
- Wide forehead
- Wide eye distance
- Almond-shaped eyes
- Lack of coordination
- Soft and doughy skin
- Immobile, bent fingers and/or toes
- Umbilical hernia
- Changes in muscle tension (reduced muscle tension in the trunk and/or increased muscle tension in the arms and legs)
- Rough, deep crying in infants
Radiological:
- Advanced bone age
- Changes in MRI of the head
Genetic Diagnostics
The “Weaver syndrome” diagnosis is confirmed when a mutation, i.e., genetic change, is detected in the EZH2 gene.
What Is the Risk of Cancer?
To date, tumors in the context of Weaver syndrome have only been described in isolated cases: One patient with lymphoma, one patient with neuroblastoma (tumor of the nerve cells of the involuntary nervous system) and acute lymphoblastic leukemia (ALL), and another patient with neuroblastoma. The risk of neuroblastoma may be increased.
In addition, the following manifestations may occur as part of Weaver syndrome:
- Tall stature ≥97th percentile: In almost all patients
- Large head circumference ≥97th percentile: In about 50% of patients
- Intellectual impairment: There is usually a mild to moderate developmental delay, which can manifest in language and as a learning disability. Overall, there is great variability from normal intellectual development to severe mental retardation.
- Characteristic shape of the face (see suspected diagnosis)
- Manifestations of the bones: Advanced bone age, curvature of the spine, immobile, flexed fingers and/or toes, buttonhole deformity of the fingers, clubfoot
- Connective tissue manifestations: Soft and tallowy skin, hypermobile joints, flat feet, umbilical hernia
- Change in muscle tension: centrally reduced muscle tension and/or peripherally increased muscle tension
- Feeding difficulties in newborns
- Rough, deep crying in infants
- Abnormalities in MRI of the head
What Is Known About the Development of "Weaver Syndrome"?
Weaver syndrome is caused by mutations, i.e., genetic changes in the EZH2 gene. This gene codes for the EZH2 protein, which is necessary for reading and replicating our body’s DNA, i.e., the genetic material.
If the EZH2 gene is present in an altered form, the EZH2 protein is also not produced correctly and can no longer fulfill its actual function. This can lead to the incorrect development of various structures in our body.
Weaver syndrome can be passed on from parents to their children. The inheritance is autosomal dominant. However, a spontaneous or new mutation, known as a de novo mutation, can also occur.
Is There Any Form of Treatment Available?
Given the many possible manifestations, therapy should always be symptom-oriented and carried out in collaboration with various specialist disciplines.
Patients with developmental delays and/or learning disabilities can receive learning, behavioral, and/or speech therapy.
Long-term physiotherapy can also delay operations and reduce pain.
Diagnosis of " Weaver Syndrome" What's Next?
If you have been diagnosed with this cancer predisposition syndrome, it is important to see a specialist. The following section explains whether cancer screening tests or other measures are needed and how they should be carried out. We also give you some valuable tips on what you can do yourself. If you have any questions, please do not hesitate to contact us or your doctor.
Diagnosis of " Weaver Syndrome" What's Next?
If you have been diagnosed with this cancer predisposition syndrome, it is important to see a specialist. The following section explains whether cancer screening tests or other measures are needed and how they should be carried out. We also give you some valuable tips on what you can do yourself. If you have any questions, please do not hesitate to contact us or your doctor.
Medical Measures for Early Detection
There are currently no standardized screening recommendations. Doctors should examine patients with Weaver syndrome regularly (e.g., once a year), particularly for cognitive and language development, changes to fingers or feet, and reduced muscle tone. The examination interval can be extended from adolescence if there are no clinical complications.
If the spine curvatures (scoliosis), screening should be carried out under orthopedic recommendations.
Further examinations and referral to specialists should occur if there are any other abnormalities.
Patients should be made aware of a possible increased risk of neuroblastoma. Targeted cancer screening is not recommended.
Weaver Syndrome – What You Can Do Yourself
You Should Pay Attention to This
You should consult a doctor when changes occur in the spine or joints. In addition, restricted movement of the fingers or toes and weakening muscles should be noticed and reported to a doctor. You should also consult a doctor if you notice any new abnormalities or complaints.
Further Information
Unfortunately, we are not yet aware of any self-help groups for patients with Weaver syndrome. As soon as we have new information, we will add it here. However, patients can also register for the CPS registry at any time or have this done by their doctors in charge.
Any further questions?
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