U.S. flag
        An official website of the United States government
          Here’s how you know

      Official websites use .gov
                A
                .gov
                website belongs to an official government organization in the United States.
          Secure .gov websites use HTTPS
                A lock
                  (
                  
                  )
                   or
                  https://
                   means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.Search
                Menu
    
                      Información en Español
                      Search NINDSSearch NINDS
            

            Main navigation
  

        
              Health Information
                                     Toggle Health Information Dropdown
                                Disorders
                Clinical Trials
                Patient & Caregiver Education
                Public Education
                Support Resources
                Funding
                                     Toggle Funding Dropdown
                                Find Funding Opportunities
                About Funding
                Preparing Your Application
                After You Submit
                Determining Your Funding Likelihood
                Manage Your Award
                NINDS Small Business Program
                Training & Career Development
                Current Research
                                     Toggle Current Research Dropdown
                                Coronavirus and NINDS
                Focus on Disorders
                Focus on Tools & Topics
                Research Funded by NINDS
                Research at NINDS
                Scientific Resources
                Trans-Agency Activities
                News & Events
                                     Toggle News & Events Dropdown
                                Events
                News
                Director's Messages
                About NINDS
                                     Toggle About NINDS Dropdown
                                Who We Are
                What We Do
                Job Opportunities 
 Home
                                Health Information
SHARE: Cerebro-Oculo-Fascio-Skeletal (COFS) Syndrome
On this page

            What is cerebro-oculo-facio-skeletal (COFS) syndrome?

Cerebro-oculo-facio-skeletal (COFS) syndrome—also known as COFS syndrome and Pena-Shokeir syndrome, Type II—is an inherited, degenerative disorder that involves the brain, eyes, and spinal cord. COFS syndrome can be detected in fetuses through ultrasound technology or it can be diagnosed at birth.

In most cases, the cause of COFS syndrome is unknown, but some cases have been identified by mutated genes which are thought to be the cause. It is characterized by skull, facial, and skeletal abnormalities. Symptoms may include:

Impaired cognitive development, which can be severe
	Abnormally small head (microcephaly)
	Reduced muscle tone (hypotonia)

Impaired reflexes
	Impaired vision
	Involuntary eye movements

A child with COFS may also have an abnormally small jaw (micrognathia), clenched fists, and wide-set nipples. Respiratory infections may be frequent.There is no cure for COFS syndrome, and most children do not live beyond five years. Treatment is supportive and symptomatic as genetic counseling is available.

*NOTE:COFS syndromeis not the same as Cohen's syndrome (cerebral obesity ocular skeletal syndrome).*

file-medical

Learn About Clinical Trials

Clinical trials are studies that allow us to learn more about disorders and improve care. They can help connect patients with new and upcoming treatment options.

How can I or my loved one help improve care for people with cerebro-oculo-facio-skeletal (COFS) syndrome?

Consider participating in a clinical trial so clinicians and scientists can learn more about COFS and degenerative disorders. Clinical research uses human volunteers to help researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.

All types of volunteers are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them.

For information about participating in clinical research visitNIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with COFS atClinicaltrials.gov, a database of current and past clinical studies and research results.

Where can I find more information about cerebro-oculo-facio-skeletal (COFS) syndrome?

Information may be available from the following resources:

National Organization for Rare Disorders (NORD)

PubMed
book-open

Order publications from the NINDS Catalog

The NINDS Publication Catalog offers printed materials on neurological disorders for patients, health professionals, and the general public. All materials are free of charge, and a downloadable PDF version is also available for most publications. Health Information
  
    

    Disorders
                                                              
                    
                                      Glossary of Neurological Terms
    
            Order PublicationsClinical Trials
                                                              
                    
                                      Clinical Trials in the Spotlight
    
            Find NINDS Clinical TrialsPatient & Caregiver Education
                                                              
                    
                                      Brain Attack Coalition
    
            Brain DonationPublic Education
                                                              
                    
                                      Brain Basics
                                                              
                    
                                      Know Your Brain
    
            Understanding Sleep
    
            Preventing Stroke
    
            The Life and Death of a Neuron
    
            Genes and the BrainKnow Stroke
                                                              
                    
                                      Health Professionals
                                                              
                    
                                      NIH Stroke ScalePatients and Caregivers
    
            Researchers
    
            Shareable Resources
                                                              
                    
                                      Recursos en EspañolMigraine Trainer® App
                                                              
                    
                                      Migraine Trainer® Shareable ResourcesMind Your Risks®
    
            NINDS Brain Educational Resources
        
  
              
    
            Support Resources
                                                              
                    
                                      Patient Organizations
    
            Professional Societies
    
            Government Resources

Did you find the content you were looking for?
  Yes, I did find the content I was looking for



No, I did not find the content I was looking forPlease rate how easy it was to navigate the NINDS website
  Very easy to navigate



Easy to navigate



Neutral



Difficult to navigate



Very difficult to navigateThank you for letting us know! Any other feedback?Submit

This site is protected by reCAPTCHA and the Google Privacy Policyand Terms of Serviceapply.

      Last reviewed on November 28, 2023
        Contact Us
  

        
              Contact NINDS
                Visitor Information
        Related Sites
  

        
              Site Map
                National Institutes of Health
                Department of Health & Human Services
                USA.gov
        Policies
  

        
              Accessibility
                Freedom of Information Act
                Linking Policy
                Privacy Statement
                Vulnerability Disclosure Policy
Follow NINDS On Social Media
          
          National Institutes of Health (NIH)
          9000 Rockville Pike, Bethesda, MD, 20892