Download - Cockayne Syndrome Network

Contact Information
Share and Care
Cockayne Syndrome Network
P.O. Box 282
Waterford, VA 20197 USA
Phone:
Jackie Clark, President
(703) 727-0404
Haylee Carroll, Vice President
(865) 435-9777
Email:
[email protected]
Helping Children with
Cockayne Syndrome and their Families
Improve their Quality of Life through
Support, Education, and Research
Website:
www.cockaynesyndrome.org
Visit our website for more
information about CS, our family
support forum, as well as
Share and Care events, donations
and fundraising opportunities.
Share & Care Cockayne Syndrome Network
is a 501(c)3 non-profit organization
CS Kids Around the World
www.cockaynesyndrome.org
What is
Cockayne Syndrome?
CS Characteristics
and Diagnosis
Cockayne syndrome (CS) is a rare genetic disorder
characterized by poor growth, microcephaly, progeria (premature aging), sensitivity to sunlight, moderate
to profound developmental and neurological delays,
and a shortened lifespan. CS is inherited in an autosomal recessive pattern. In order for a child to be affected
by CS, he or she must inherit a mutation (−) in the same
CS gene from both parents. The parents and other
“carriers” of a single CS gene mutation remain healthy.
Once two parents are known to be carriers, they have a
1 in 4 (25%) chance of having a child with CS.
The following is a list of the most common characteristics noted in reported cases of CS. No child will
necessarily have all the characteristics listed, and some of
these findings are progressive.
• Social, jovial personalities
• Sunburns easily
• Progeria (premature aging)
The 8th International Family Conference for Cockayne Syndrome
October 2007, Boston, MA
• CS type I is characterized by normal prenatal
growth with the onset of growth and developmental abnormalities around one year of age. The
typical lifespan is ten to twenty years of age.
• CS type II is characterized by growth failure and
other abnormalities at birth, with little or no postnatal neurologic development. The typical lifespan
is up to seven years.
• CS type III is characterized by a later onset, lesser
symptoms, and/or a slower rate of progression. The
expected lifespan is unclear, but can extend to forty
or fifty years of age.
Some individuals have combined features of both
Cockayne syndrome and xeroderma pigmentosum, which is characterized by a wide range of skin
changes, from mild freckling to skin cancer on areas
exposed to sunlight.
• Microcephaly
• Neurodevelopment delay
What Genes are
Related to CS?
The symptoms of Cockayne syndrome vary significantly,
especially with regard to the age of onset and the rate of
progression. The resulting spectrum of severity can be
imperfectly divided into three “types” of CS:
• Shortened life span
Mutations in the ERCC6 (CSB) or ERCC8 (CSA) genes cause
Cockayne syndrome. The ERCC6 and ERCC8 genes provide instructions for making two proteins, called CSB and
CSA, which are involved in repairing DNA. If either gene is
altered, DNA damage is not as rapidly repaired. As a result, damaged DNA accumulates, which probably leads to
impaired cell functions and eventually, cell death.
Increased cell death likely contributes to features of
Cockayne syndrome such as growth failure and premature aging.
Research and genetic testing for CS is being conducted
by Dr. Edward G. Neilan, M.D., Ph.D., Staff Physician,
Division of Genetics, Children’s Hospital Boston.
Email [email protected] or phone
(617) 919-2671.
Treatment and
Management of CS
No specific treatment currently exists for CS. Patients
should be treated according to the symptoms they have.
Physical, occupational, speech, vision, and hearing therapy are most often beneficial. Visit our website for more
information at www.cockaynesyndrome.org.
• Short stature (height <5th percentile)
• Contractures
• Unsteady gait
• Spasticity
• Rounded back
• Deep set eyes, small slender straight nose
• Dental caries (cavities)
• Retinopathy and/or cataracts
• Hearing loss
• Poor circulation (cold hands and feet)
• Low body temperature
• Feeding problems
• Sleeping with eyes open
• Tremors
• White matter abnormalities
• Basal ganglia calcifications
• Liver abnormalities; elevated liver enzymes
• Hypertension
• Severe itchiness
Cockayne syndrome is diagnosed by clinical findings
including postnatal growth failure and progressive
neurologic dysfunction along with other characteristics. Diagnosis should include molecular genetic testing.
Contact Dr. Edward Neilan for more information.
Helping Children with Cockayne Syndrome and their Families Improve their Quality of Life through Support, Education, and Research