Schwartz-Jampel syndrome, Type 1

What is Schwartz-Jampel syndrome, Type 1?

It is a rare genetic syndrome that affects mainly the skeletal muscles.
There are two types of the syndrome, with Type 1 being the most common form of the syndrome, with symptoms that are usually first identified in late infancy or early childhood.

There are 85 cases reported of the syndrome so far.

What gene changes cause Schwartz-Jampel syndrome, Type 1?

It is believed that the syndrome is caused by changes of a gene that encodes perlecan on the short arm of chromosome 1, this is the HSPG2 gene.

The syndrome is inherited in an autosomal recessive pattern.

What are the main symptoms of Schwartz-Jampel syndrome, Type 1?

Symptoms may vary in affected individuals but the main symptoms of the syndrome mainly affect the skeletal muscle, bone and cartilage. These include muscle weakness, stiffness and joint contractures (where the joins are permanently bent or straightened). Very small skeletal muscles are also common with the syndrome.
Eye anomalies and abnormalities are also common with the condition.
Growth delay is also associated with the syndrome.
Developmental delays are common, especially in the toddler years. These delays mainly affect the development of gross motor skills- crawling, walking, running.
Unique facial features of the syndrome include a very small mouth and chin, low set ears, a flat face, mask-like facial expressions that seem fixed.

How does someone get tested for Schwartz-Jampel syndrome, Type 1?

The initial testing for Schwartz-Jampel syndrome, Type 1 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.

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