What type of disorder is Coffin Lowry Syndrome?

Coffin-Lowry syndrome is a rare genetic disorder characterized by craniofacial (head and facial) and skeletal abnormalities, delayed intellectual development, short stature, and hypotonia.

What is the life expectancy of someone with Coffin Lowry Syndrome?

There are several case reports of rapidly progressive kyphosis and acute paralysis. This presents a significant problem and may dramatically shorten the life span of a CLS patient. Current literature reports life expectancy as a mean of 20.5 years.

What is Coffin series Syndrome?

Coffin-Siris syndrome (CSS) is a rare genetic disorder that may be evident at birth (congenital). The disorder may be characterized by abnormalities of the head and facial (craniofacial) area, resulting in a coarse facial appearance.

What are the chances of a person with Coffin Lowry Syndrome passing the disease to their offspring?

CLS is inherited in an X-linked manner. Approximately 70%-80% of probands have no family history of CLS, and 20%-30% have more than one additional affected family member. Children of a woman known to be heterozygous are at 50% risk of inheriting the pathogenic variant.

What do you need to know about Coffin Lowry syndrome?

Information from the National Library of Medicine’s MedlinePlus… Coffin-Lowry syndrome is a rare genetic disorder characterized by craniofacial (head and facial) and skeletal abnormalities, delayed intellectual development, short stature, and hypotonia.

How does Coffin-Lowry syndrome affect phosphorylation of transcriptional regulators?

In individuals with Coffin–Lowry syndrome, phosphorylation of transcriptional regulators is reduced due to the weakened activity of RSK2 kinase activity. RSK2 is normally activated by the ERK MAP kinase. Mutated RSK2 may be deficient for activation by ERK, or its kinase activity may be reduced despite activation by ERK.

How many copies of chromosome 21 does Down syndrome have?

Trisomy 21: About 95% of people with Down syndrome have Trisomy 21. 2 With this type of Down syndrome, each cell in the body has 3 separate copies of chromosome 21 instead of the usual 2 copies.

Is there evidence for the etiology of Down syndrome?

Etiology of Down syndrome: Evidence for consistent association among altered meiotic recombination, nondisjunction, and maternal age across populations. Am J Med Genet A. 2009 Jul;149A (7):1415-20.