Chromatin Disorders

Chromatin disorders are genetic conditions caused by changes in the proteins that control chromatin. Chromatin helps organize your genes so that they can do their jobs. Problems with chromatin can lead to health and development issues. These problems can affect the brain, nervous system, and other parts of the body.

Chromatin disorders are rare, meaning fewer than 1 in 10,000 people have them. Both males and females can be affected by chromatin disorders.

At St. Jude Children’s Research Hospital, we study many types of chromatin disorders, including:

• Kabuki syndrome
• Rubinstein-Taybi syndrome
• Menke-Hennekam syndrome
• Smith-Magenis syndrome
  

Chromatin disorder symptoms

Symptoms of chromatin disorders can be different for each person and can range from mild to severe. Some symptoms appear at birth. Others appear later in life.

The symptoms depend on the specific disorder, and they can include:

• Slower growth or development
• Trouble learning or solving problems
• Low muscle tone, called hypotonia
• Mobility issues
• Sleep and behavior issues
• Distinct facial features

Chromatin disorders can also affect other parts of the body, like the heart, bones, lungs, or other systems. Some chromatin disorders may increase the risk of immune system problems.

These problems include:

• Immunodeficiency: the immune system cannot fight off infections and diseases well
• Autoimmune disorders: the immune system attacks healthy cells in the body by mistake

Chromatin disorder causes

Chromatin disorders are caused by harmful changes in genes that can lead to mistakes in how DNA is organized and packed inside cells. These errors can lead to a range of health problems. These problems often affect how the brain develops and works.

Chromatin disorder care at St. Jude

St. Jude provides the highest quality of care for patients with chromatin disorders. We do research to better understand, diagnose, and treat these rare, genetic neurological disorders in children.

Our goal is to change how these disorders are treated. The Center for Experimental Neurotherapeutics (CENT) was started at St. Jude as part of the Pediatric Translational Neuroscience Initiative (PTNI) to focus on these neurological disorders.

Children with chromatin disorders who are accepted as patients at St. Jude may take part in clinical research or clinical trials, as they become available. These studies help scientists learn more about chromatin disorders. They may also help scientists develop new treatments.  

Chromatin disorder clinical trials

Resources outside St. Jude