Ehlers-Danlos syndrome, Musculocontractural Type 1 (EDSMC1)

What is Ehlers-Danlos syndrome, Musculocontractural Type 1 (EDSMC1)?

Also known as adducted thumb clubfoot syndrome, this rare disease is an inherited, connective tissue disorder.

It affects multiple parts of the body, including the face, internal organs and developmental delay of an individual.

What gene changes cause Ehlers-Danlos syndrome, Musculocontractural Type 1 (EDSMC1)?

Mutation of the CHSTI4 gene is responsible for adducted thumb clubfoot syndrome. It is inherited in an autosomal recessive pattern.

Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms, but have a 25% chance of passing the copies of the gene mutations onto each of their children.

What are the main symptoms of Ehlers-Danlos syndrome, Musculocontractural Type 1 (EDSMC1)?

The main physical symptoms include a slight build, thin skin and easy bruising.

Unique facial features of the syndrome include wide-set eyes, large ears and a small mouth with elevated palate.

Joint hypermobility and contractures of the thumb and feet are also common. As are clubfeet.

In infancy many individuals will experience decreased muscle tone, and delay relating to their psychomotor development. However the syndrome has no impact on cognitive ability or development.

The syndrome may also cause heart, kidney and intestinal defects which vary in severity between individuals.

How does someone get tested for Ehlers-Danlos syndrome, Musculocontractural Type 1 (EDSMC1)?

The initial testing for Ehlers-Danlos Syndrome, Musculocontractural 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.

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.

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