Cerebro-Oculo-Facio-Skeletal Syndrome

Common Name(s)

Cerebro-Oculo-Facio-Skeletal Syndrome

Cerebro-oculo-facio-skeletal (COFS) syndrome is a degenerative disorder that primarily involves the brain, eyes, and spinal cord. Affected individuals have mild to severe intellectual disability, severely reduced muscle tone (hypotonia), impaired reflexes, vision impairment, and involuntary eye movements. Children with COFS syndrome have distinctive facial features, including low-set ears, small eyes, small head size (microcephaly), and a small jaw (micrognathia). They may also have abnormalities of the skull, limbs, heart, and kidneys. Individuals with COFS syndrome are often diagnosed at birth. In many cases, the cause of the disorder is unknown. Some children with this condition have mutations in the ERCC1, ERCC2, ERCC5, or ERCC6 gene.  When an individual has the features of COFS syndrome and a mutation in the ERCC6 gene, they are said to have Cockayne syndrome type II.   COFS syndrome is inherited in an autosomal recessive manner. Most children with this condition do not live past age 5. Treatment involves supportive care and is based on an individual's symptoms.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Cerebro-Oculo-Facio-Skeletal Syndrome" for support, advocacy or research.

Logo
CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

Last Updated: 12 Oct 2013

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Cerebro-Oculo-Facio-Skeletal Syndrome" for support, advocacy or research.

Logo
CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

http://www.cnsfoundation.org

Last Updated: 12 Oct 2013

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Cerebro-Oculo-Facio-Skeletal Syndrome" returned 4 free, full-text research articles on human participants. First 3 results:

First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure.
 

Author(s): Nicolaas G J Jaspers, Anja Raams, Margherita Cirillo Silengo, Nils Wijgers, Laura J Niedernhofer, Andria Rasile Robinson, Giuseppina Giglia-Mari, Deborah Hoogstraten, Wim J Kleijer, Jan H J Hoeijmakers, Wim Vermeulen

Journal: Am. J. Hum. Genet.. 2007 Mar;80(3):457-66.

 

Nucleotide excision repair (NER) is a genome caretaker mechanism responsible for removing helix-distorting DNA lesions, most notably ultraviolet photodimers. Inherited defects in NER result in profound photosensitivity and the cancer-prone syndrome xeroderma pigmentosum (XP) or two ...

Last Updated: 2 Feb 2007

Go To URL
Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.
 

Author(s): J M Graham, K Anyane-Yeboa, A Raams, E Appeldoorn, W J Kleijer, V H Garritsen, D Busch, T G Edersheim, N G Jaspers

Journal: Am. J. Hum. Genet.. 2001 Aug;69(2):291-300.

 

Cerebro-oculo-facio-skeletal (COFS) syndrome is a recessively inherited rapidly progressive neurologic disorder leading to brain atrophy, with calcifications, cataracts, microcornea, optic atrophy, progressive joint contractures, and growth failure. Cockayne syndrome (CS) is a recessively ...

Last Updated: 13 Jul 2001

Go To URL
Prenatal diagnosis of the cerebro-oculo-facio-skeletal (COFS) syndrome.
 

Author(s): D Paladini, M D'Armiento, I Ardovino, P Martinelli

Journal: Ultrasound Obstet Gynecol. 2000 Jul;16(1):91-3.

 

The Cerebro-Ocular-Facio-Skeletal (COFS) syndrome is an autosomal recessive condition characterized by neurogenic arthrogryposis, severe facial anomalies and brain maldevelopment. We describe here the first case of prenatal diagnosis of this syndrome in a 21-week fetus.

Last Updated: 6 Mar 2001

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Cerebro-Oculo-Facio-Skeletal Syndrome" returned 0 free, full-text review articles on human participants.

 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.