Paula and Bobby
Parents of Lillie
What is Cri-Du-Chat syndrome?
Cri-DU-Chat syndrome is a rare genetic condition usually diagnosed at birth. The characteristic high pitched cat like cry is a major symptom of the syndrome and often enough to trigger the diagnostic process in a newborn.
Also known as 5p- (5p minus) syndrome, this rare disease is a chromosomal condition characterized by intellectual disability, developmental delay, and unique facial features.
What gene changes cause Cri-Du-Chat syndrome?
The syndrome is caused when chromosome 5 has a missing piece, hence the syndrome is often referred to as 5p- syndrome or even cat cry syndrome. The deletion is random and not inherited.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.
What are the main symptoms of Cri-Du-Chat syndrome?
Apart from the characteristic cat-like, high pitched cry, facial and physical characteristics include widely spaced eyes and a small head, low muscle tone and a low birth weight.
Symptoms vary considerably between individuals, possibly related to the size of the missing piece from the chromosome.
Developmental delay and intellectual disability are main symptoms, but also may vary in the extent of their severity.
Many individuals with the syndrome exhibit language delay and just 50% of individuals will develop enough language ability to communicate effectively verbally.
How does someone get tested for Cri-Du-Chat syndrome?
The initial testing for Cri-DU-Chat 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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