How many people have Rothmund-Thomson syndrome?

Frequency. Rothmund-Thomson syndrome is a rare disorder; its incidence is unknown. About 300 people with this condition have been reported worldwide in scientific studies.

What causes Rothmund-Thomson syndrome?

Rothmund-Thomson syndrome may be caused by a mutation (change) in the RECQL4 gene. Also called poikiloderma congenitale and RTS.

What is Thompson disease?

What is myotonia congenita? Myotonia congenita is an inherited myopathy, a disease that causes problems with the tone and contraction of skeletal muscles. It doesn’t cause muscle atrophy (shrinkage); instead, it sometimes can cause muscle enlargement and increased muscle strength.

Is Rothmund Thomson syndrome genetic?

Rothmund-Thompson syndrome is a genetic disorder that is inherited in an autosomal recessive pattern. Approximately 2/3 of individuals with RTS are found to have an abnormality (mutation) in the RECQL4 gene.

How common is RTS?

RTS is found equally in both males and females and is rare, occurring in 1 out of every 100,000 to 300,000 live births. In most cases, the occurrence of RTS is random with no other family members with the syndrome. There is, however, an increase in the number of cases being reported each year.

Can RTS be cured?

There is no specific treatment for RTS. However, the following treatments can be used to manage problems commonly associated with the condition. Surgery to repair the bones in the thumbs or toes can sometimes improve grasp or relieve discomfort.

Are you born with myotonia?

Congenital myotonic dystrophy is often apparent at birth. Characteristic features include weak muscle tone (hypotonia), an inward- and upward-turning foot (clubfoot ), breathing problems, delayed development, and intellectual disability. Some of these health problems can be life-threatening.

How do you test for Williams syndrome?

chromosome microarray testing – a chromosome test that detects Williams syndrome and many other small chromosome changes. fluorescent in situ hybridisation (FISH) chromosome test to check for the deletion of the elastin gene on chromosome 7. FISH testing has mostly been replaced by chromosome microarray.