Paula and Bobby
Parents of Lillie
What is Cockayne syndrome?
Cockayne syndrome is a rare genetic condition that is usually diagnosed within the first two years of life. This rare disease was first identified in 1936 and named after the doctor who identified it.
There are 3 types of the syndrome: Type A is the classic form of the disease, Type B is the most severe form of the disease, with Type C being the mildest form.
What gene changes cause Cockayne syndrome?
⅔ of cases are caused by mutations to the ERCC6 gene. The remaining ⅓ are the result of mutations to the ERCC8 gene. It is inherited in an autosomal recessive pattern.
Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms, but have a 25% chance of passing the copies of the gene mutations onto each of their children.
What are the main symptoms of Cockayne syndrome?
Symptoms vary in their severity according to the type of the syndrome diagnosed.
Common physical symptoms include a small head, and short stature.
Unique facial characteristics include a long face, small chin, sunken eyes and big ears.
Failure to thrive in infancy, followed by a failure to growth properly in later childhood is also a feature of the syndrome.
The condition is progressive and most symptoms worsen with time. Other health conditions associated with the syndrome include issues with walking, an unstable gait, problems with balance, and abnormal reflexes.
Epilepsy presents in some individuals with the condition, as does hearing loss, and sun sensitivity due to very thin skin.
Individuals may also have issues with their liver, kidneys and an inability to sweat.
Genital abnormalities may present in males, and individuals with the disorder are unable to reproduce.
Several intellectual disabilities, zero to very limited speech development and premature ageing are also features of the syndrome.
How does someone get tested for Cockayne syndrome?
The initial testing for Cockayne syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
What is FDNA Telehealth?
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