Families

Hyaline Fibromatosis Syndrome (HFS) is a rare genetic condition that affects the skin, joints, and other tissues due to abnormal protein build-up.

HFS often appears at birth or in early infancy and causes joint stiffness, thickened skin, and painful movement. Some children experience growth problems, difficulty feeding, and severe diarrhea, which can be life-threatening in severe cases. However, intelligence is not affected.

The severity of symptoms varies—some children may have a milder form and live into adulthood.

Genetic counselling:
HFS is passed down in families in an autosomal recessive pattern, meaning a child must inherit two altered copies of the ANTXR2 gene (one from each parent) to develop the condition. If both parents are carriers, there is a 1 in 4 chance their child will have the condition.

Family members may consider genetic testing to understand their risks, especially if they are planning to have children. Carrier testing can help determine if parents are at risk of passing HFS to their children. For families with an affected child, prenatal or preimplantation genetic diagnosis may be options to consider. Genetic counseling provides guidance on inheritance, testing, and family planning options.

Support groups and specialist teams can help families manage this lifelong condition.