Weaver syndrome is a rare genetic condition that causes rapid growth during childhood. The main sign is tall stature, but some people also experience facial and cognitive irregularities.
Weaver syndrome is considered an extremely rare condition. As of 2025, only about 70 cases have been reported in the medical literature.
The characteristic sign of Weaver syndrome is tall stature, which is often apparent from birth. Some people exhibit no other signs, but others may develop associated coordination or physical feature irregularities.
Read on to learn more about this rare disease, including causes, symptoms, and outlook.
What are the other names for Weaver syndrome?
Weaver syndrome goes by several other names, including:
- Waver-Smith syndrome
- WS
- EZH2-related overgrowth
- Overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly
Weaver syndrome is caused by mutations in the EZH2gene, which can affect the function of the polycomb repressive complex 2 (PRC2).
This, in turn, influences the expression of many other genes, which can disrupt normal cellular processes, signalling, and activation, possibly leading to a range of physical and neurological irregularities.
A similar condition, called Sotos syndrome, is caused by a mutation in the gene NSD1. It leads to similar signs and symptoms to Weaver syndrome, and there has been debate about whether they should be classified separately or considered two forms of the same disease caused by different gene mutations.
Is Weaver syndrome inherited?
Most cases of Weaver syndrome reported in the medical literature developed sporadically. This means they developed in people without a family history and without a known cause.
Weaver syndrome can also be inherited through dominant gene mutations. Dominant means that you only need one associated gene from one parent to develop it. People with Weaver syndrome have a 50% chance of passing it to their child.
The main symptom of Weaver syndrome is rapid growth and bone development.
Tall stature is the only sign for some people, and some with Weaver syndrome grow to be significantly taller than the general population. The world’s tallest woman, who has Weaver syndrome, is a little over 7 feet tall.
Other musculoskeletal differences associated with Weaver syndrome
Some people also have particular craniofacial features, such as:
- large head size (macrocephaly)
- eyes that are far apart
- extra skin over the inner corner of their eyes
- flat back of the head
- longer than average groove above the upper lip and below the nose
- small jaw
Other changes reported in some people include:
- voice irregularities, such as a hoarse cry during childhood
- thin hair
- inverted nipples
- loose skin
- wide thumbs
- permanently bent fingers (camptodactyly)
- deep-set and thin nail
- raise fingertip pads
Some people with Weaver syndrome also experience intellectual disabilities, so they may require additional support at school or work.
The level of intellectual disability in people with Weaver syndrome can range from none to severe. About
Weaver syndrome is typically identified in early childhood, often in newborns. A doctor will usually diagnose the condition in newborns if they recognize the characteristic features of the disease, such as:
- characteristic body changes
- large stature for age
- facial changes
- mild cognitive difficulties
Genetic testing, usually performed through a blood sample, can confirm the diagnosis and rule out other genetic conditions that can cause similar changes. It can also help diagnose individuals after
After an initial diagnosis, a doctor may recommend seeing specialists to assess the function of your eyes and musculoskeletal, cardiovascular, and neurological systems, as well as general behaviors.
Can Weaver syndrome be detected before birth?
In some cases, Weaver syndrome may be diagnosed with a prenatal ultrasound before birth, which can help identify characteristic features of the condition. Genetic testing can confirm the diagnosis.
Differential diagnosis
Genetic testing can help medical professionals differentiate Weaver syndrome from other genetic conditions,
- Sotos syndrome
- Cohen-Gibson syndrome
- Imagawa-Matsumoto syndrome
- Beckwith-Wiedemann syndrome
- Marfan syndrome
- Tatton-Brown-Rahman syndrome
- Beals syndrome
- Simpson-Golabi-Behmel syndrome
- Malan syndrome
However, it’s important to note that diagnosing Weaver syndrome can be challenging due to its similarity to other growth-related conditions, its rarity, and the absence of specific diagnostic guidelines.
As such, Weaver syndrome is often diagnosed in people ages 2 years or older.
Find a medical specialist in your area today
Your healthcare team may comprise several people who can provide support.
Sometimes, a medical specialist will be required to help diagnose, manage, or treat a healthcare condition.
You can find the following medical specialists in your area today:
Weaver syndrome doesn’t have a cure, but some treatments can help manage any symptoms or physical, neurological, or cognitive difficulties to improve quality of life.
Some people may not require any particular treatment, while others may need to work with multiple specialists, such as neurologists, speech therapists, or physical therapists.
Some treatments include:
- physical therapy
- speech therapy
- occupational therapy
- surgery
- assistive devices, such as wheelchairs, canes, or braces
- psychological support, such as talk therapy
- educational support
The outlook for Weaver syndrome varies significantly between people.
Most people with Weaver syndrome can live a healthy life with a similar life expectancy to others without the condition. This means they can participate in daily activities and work in most jobs.
In some cases, however, individuals with coordination difficulties or weak muscles may face challenges and require the use of a wheelchair or a walking assistive device.
Research also suggests that people with Weaver syndrome may have a slightly increased risk of developing a type of cancer called neuroblastoma, or cancer-related problems that affect the blood, bones, or lymph nodes.
However, more research is needed to understand the link.
Yes, some people may experience a low, hoarse cry during infancy.
Limited research exists on the life expectancy for Weaver syndrome, but it’s expected to be similar to that of those without the condition.
Some experts estimate that only up to 70 cases of Weaver syndrome have been identified.
Weaver syndrome is a very rare genetic condition that causes tall stature. Some people also develop problems such as intellectual disability, facial changes, and movement problems.
Weaver syndrome doesn’t have a cure. Treatment generally focuses on improving the quality of life and treating problems with movement.
A healthcare team that includes a primary care doctor, physical therapist, and mental health specialist can help you navigate any challenges associated with Weaver syndrome.