Cerebro-Oculo-Facio-Skeletal (COFS) Syndrome

There are different variations of mutations, depending on which of the following genes is affected—ERCC1, ERCC2, ERCC5, or ERCC6—the latter condition is known as Cockayne syndrome type II.

In most cases, the cause of cerebro-oculo-facio-skeletal (COFS) syndrome is unknown, but some cases have been identified by mutated genes which are thought to be the cause. COFS is characterized by skull, facial and skeletal abnormalities.

This rare condition is a neurodegenerative disease inherited and often connected with maternal age as well as a history of miscarriages.

Cerebro-oculo-facio-skeletal (COFS) syndrome develops as a genetic mutation and is typically diagnosed at birth. This condition can sometimes be detected by ultrasound technology, and more frequently with the advent of 3-D ultrasounds.

While this genetic disorder cannot be prevented, women who are of advanced maternal age or at higher risk of genetic abnormalities may opt to receive genetic counseling prior to becoming pregnant so that they understand the risks involved.

A child with cerebro-oculo-facio-skeletal (COFS) syndrome may 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. 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

Cerebro-oculo-facio-skeletal (COFS) syndrome develops as a genetic mutation and is typically diagnosed at birth. This condition can sometimes be detected by ultrasound technology, and more frequently with the advent of 3-D ultrasounds.

Infants with COFS typically need oxygen for respiratory issues. Additionally, these babies typically need tube feeding, and only have a lifespan of up to five years. These babies tend to suffer from extreme failure to thrive, with often insurmountable developmental delays.

Cerebro-oculo-facio-skeletal (COFS) syndrome can be detected in fetuses through ultrasound technology, genetic testing or it can be diagnosed at birth. Treatment is limited to symptomatic and support from a medical care team or COFS groups. Babies typically need tube feeding and oxygen due to respiratory distress.

Infants diagnosed with COFS suffer from severe respiratory infections and will typically die within the first five years of life.

Para comprender mejor su diagnóstico y contribuir a una investigación de vanguardia, considere la posibilidad de participar en un ensayo clínico para que médicos y científicos puedan aprender más sobre las causas, los síntomas, el tratamiento y la prevención de esta enfermedad. La investigación clínica utiliza voluntarios humanos para ayudar a los investigadores a aprender más sobre un trastorno y, tal vez, a encontrar mejores formas de detectar, tratar o prevenir enfermedades de manera segura.

Se necesitan voluntarios (tanto sanos o con alguna afección o enfermedad), de todas las edades, sexos, razas y etnias para garantizar que los resultados del ensayo sean relevantes para la mayor cantidad posible de personas, y que los tratamientos sean seguros y eficaces para todo aquel que los necesite.

Para obtener información sobre cómo participar en investigaciones clínicas, visite NIH Clinical Research Trials and You. Más sobre los ensayos clínicos que actualmente buscan participantes en Clinicaltrials.gov.