Weaver syndrome, also known as Weaver-Smith syndrome, it is a hereditary disorder that results in excessive bone growth. This condition can also lead to alterations in facial structure and head size. Additionally, it can impact various muscles and body parts.

The manifestation of Weaver syndrome varies from person to person. The most prevalent feature is increased height. Individuals with Weaver syndrome may experience reduced muscle tone, impaired coordination, and abnormal curvature or deformities in their hands or feet. Moreover, intellectual disabilities ranging from mild to severe can also be present in individuals with Weaver syndrome.

Causes of Weaver Syndrome

Weaver syndrome is classified as a genetic disorder, which occurs when there are changes or mutations in genes. Specifically, the EZH2 gene is involved in Weaver syndrome. This mutation in the EZH2 gene leads to excessive bone growth and triggers a cascade effect that impacts other genes throughout the body. Consequently, Weaver syndrome can manifest in various muscles, bones, and organs.

The exact mechanism by which the EZH2 gene mutation causes Weaver syndrome remains unclear to experts. Approximately half of individuals with Weaver syndrome inherit the gene mutation from one of their parents. If either the mother or father carries the EZH2 gene mutation, there is a 50% chance of passing it on to their child with each pregnancy. It is important to note that Weaver syndrome can also occur in individuals who do not have a parent with the EZH2 gene mutation. In such cases, the mutation arises spontaneously.

Symptoms of Weaver Syndrome

Signs of Weaver syndrome may manifest in your baby prior to birth. During a prenatal ultrasound, your healthcare provider may observe that your baby’s bones are longer than the average length. Consequently, your provider may diagnose your baby with macrosomia, indicating that your baby is larger than the average size.

If your newborn is affected by Weaver syndrome, they may exhibit an elongated body length or a higher birth weight. Typically, babies with Weaver syndrome have a low-pitched cry that sounds hoarse or scratchy. In certain instances, your baby may not display obvious symptoms until they reach a few months of age.

Your healthcare provider may inform you that your baby has “advanced bone age,” indicating that their bones are maturing at a faster rate than normal. As a result, your baby’s growth may be so rapid that it surpasses the growth charts. Weaver syndrome can lead to variations in the appearance of the head or facial features, such as: 

• Wide forehead.
• Epiphanthal folds, or excess skin above the inner corners of the eyes.
• Palpebral fissures, or downward-sloping eyelids.
• Distance-separating eyes (orbital hypertelorism).
• Macrocephaly, or large head.
• Large or positioned low ear.
• Longer groove that runs between the nose and upper lip.
• Little mandible (micrognathia).

Diagnosis of Weaver Syndrome

If Weaver syndrome is suspected by your healthcare provider, they may conduct genetic tests to identify the presence of the EZH2 gene mutation. The process of genetic testing entails obtaining a small blood sample and sending it to a genetic testing laboratory.

In certain instances, your healthcare provider may also search for various gene mutations to exclude the possibility of other genetic disorders. This particular test is referred to as a genetic testing panel. Since certain genetic conditions, like Sotos syndrome, exhibit similar symptoms to Weaver syndrome, a genetic testing panel is utilized by your healthcare provider to ascertain the specific gene mutations that you or your child may possess.

Treatment 

Weaver syndrome does not have a cure; however, your healthcare provider can develop a comprehensive care plan to assist you or your child in managing the condition. This care plan may encompass various aspects, such as:

• Behavioral health care to address intellectual disabilities.
• Cardiovascular care is aimed at treating and managing congenital heart conditions.
• Additional support for education and learning, which may involve the inclusion of a tutor or counselor.
• Orthopedic surgery or procedures to address any issues related to joints, hands, or feet.
• Physical therapy sessions to enhance muscle strength and coordination.

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Bottom Line

Weaver syndrome is a rare condition that manifests uniquely in each individual. By receiving appropriate medical attention, you or your child can receive the necessary support to effectively manage symptoms and lead a healthy life. It is important to maintain regular visits with your healthcare provider to address any physical or mental symptoms and receive the required care.