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What is Lowes Syndrome?

What is Lowes Syndrome?

Lowe syndrome is a condition that primarily affects the eyes, brain, and kidneys. This disorder occurs almost exclusively in males. Infants with Lowe syndrome are born with thick clouding of the lenses in both eyes (congenital cataracts ), often with other eye abnormalities that can impair vision.

What are the symptoms of Lowe syndrome?

Lowe syndrome is characterized by vision problems including clouding of the lenses of the eyes (cataracts) that are present at birth, kidney problems that usually develop in the first year of life, and brain abnormalities that are associated with intellectual disabilities.

When was Lowe syndrome discovered?

It was first described in 1952 by American paediatrician Charles Upton Lowe (August 24, 1921 February 9, 2012) and colleagues at the Massachusetts General Hospital in Boston. Because of the three major organ systems involved (eyes, brain and kidney), it is known as oculocerebrorenal syndrome.

How is Werner syndrome diagnosed?

Confirmation of a clinical diagnosis of Werner syndrome may be achieved through molecular testing of the WRN gene. Molecular sequencing of the WRN gene to detect disease-causing mutations, as well as biochemical testing to quantitate the amount of WRN protein produced by cells, is available on a clinical basis.

Can hypotonia affect eyes?

Description. Gillespie syndrome is a disorder that involves eye abnormalities, weak muscle tone from birth (congenital hypotonia), problems with balance and coordinating movements (ataxia), and mild to moderate intellectual disability.

What causes Incontinentia Pigmenti?

This condition is inherited in an X-linked dominant pattern . The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes . In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder.

What is the difference between progeria and Werner syndrome?

These are actually two distinctly different disorders; a major clinical difference is that the onset of the Hutchinson-Gilford syndrome (sometimes called progeria of childhood) occurs within the first decade of life, whereas the first evidence of Werner syndrome (sometimes called progeria of the adult) appears in …

Is there a cure for Werner syndrome?

People with Werner Syndrome are treated for their various symptoms (cataracts are removed, heart disease is treated, etc.). There is no known cure for the condition.

Is progeria and Werner syndrome the same?

Werner syndrome, also called progeria, is a hereditary condition associated with premature aging and an increased risk of cancer and other diseases. Signs of Werner syndrome usually develop in the childhood or teenage years.

Is hypotonia a disability?

It’s extremely rare for a baby to have a hypotonia diagnosis without an underlying condition associated with it. Hypotonia, as a symptom, isn’t a disability, but the underlying diagnosis could be a disability. Hypotonia doesn’t affect a person’s intellectual abilities.

Can males get incontinentia pigmenti?

Although IP is classified as a male-lethal X-linked dominant disorder, a small number of surviving male patients have been reported, some within families with typically affected female patients (Scheuerle 1998).

Can you have children with incontinentia pigmenti?

An IP-affected female has three possible outcomes at the birth of any pregnancy with equal probability: an unaffected female, an affected female, and an unaffected male.

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