Ring 14 Syndrome

What is ring 14 syndrome?

Ring 14 syndrome is a rare genetic disorder that causes developmental delays, intellectual differences, intractable epilepsy (seizures that don’t change with medication) hypotonia (low muscle tone) and several other symptoms.

What causes ring 14 syndrome?

A change on chromosome 14 causes ring 14 syndrome. Two ends of the chromosome break and then fuse together to form a “ring.” This fusion often results in a loss of genetic material from the ends of chromosome 14.

Ring 14 syndrome isn’t typically inherited from a parent and isn’t linked to illness or exposure to substances during or after pregnancy. This syndrome is typically due to a random change during egg or sperm cell formation or in early embryonic development.

Who gets ring 14 syndrome?

Ring 14 syndrome occurs in both males and females. Due to its rare genetic nature, the exact number of individuals with this condition is unknown, but to date fewer than 100 patients have been reported.

What are the signs and symptoms of ring 14 syndrome?

The symptoms of ring 14 syndrome include:  

• Behavior issues
• Delayed growth
• Developmental delays
• Dysmorphic features
• Immune system problems
• Intractable epilepsy
• Retina changes
• Low muscle tone
• Microcephaly (small head size)
• Mild to severe learning disabilities
• Short stature

What tests are used to diagnose ring 14 syndrome?

A genetic test called a karyotype (or chromosome analysis) is essential to identify ring 14 syndrome. This test uses a sample of blood, saliva or tissue from a cheek swab. The lab looks at the structure of the chromosomes under a microscope to see when a ring chromosome is present. Some children may also get a chromosomal microarray test, which detects extra or missing pieces of genetic material. This test gives us a better understanding of how much genetic material is deleted because of the ring chromosome and exactly which genes are involved.

How is ring 14 syndrome treated?

There’s no cure for Ring14 syndrome but researchers are working to find one. At Children’s Hospital Colorado, we help people with this condition manage symptoms and maximize development to provide the best possible quality of life. 

We see children and adults of all ages with ring 14 syndrome in our Neurogenetic Diagnostic Clinic. Our experts work with your local care team to coordinate care and provide recommendations and resources to support your family. These recommendations may include: 

• Seizure management 
• Physical, occupational and speech therapy 
• Behavioral interventions 
• Academic support 
• Sleep management 
• Feeding support 
• Equipment such as wheelchairs 

Why choose us for ring 14 syndrome treatment?

Our team of experts is determined to provide the best quality of life for your loved one. Our Neuroscience Institute experts are recognized as leaders, both nationally and internationally, in diagnosing and managing rare genetic disorders. Our specialists can provide the most comprehensive care, including the latest clinical trials and genetic consultative services.

Our Neurogenetic Diagnostic Clinic provides many services and doctors in one place. Whether your loved one needs occupational therapy, feeding support or help managing seizures, our team comes together to develop an individualized treatment plan tailored to each child’s specific needs. At Children’s Colorado, we provide all the care currently available for children and adults with ring 14 syndrome.

Helpful resources

• Ring 14 USA
• MedlinePlus
• RareChromo