Mendelian connective tissue disorders

Thematic group

Chair of the thematic group

Bert Callewaert (University Hospital Ghent)

Chair of the thematic group

Raoul Hennekam (Academic Medical Center Amsterdam)

Focus of the group

Connective tissue forms the supportive framework of the vertebrate body. Although variable in amount and composition from one organ system to another, a common feature of all connective tissues is the prominent presence of extracellular matrix (ECM) within which several types of connective tissue cells are embedded. Heritable connective tissue diseases are caused by mutations in genes responsible for the synthesis of the different glycoprotein components, in genes involved in enzymatic modifications of these glycoproteins, or in genes which play a role in the organisation or homeostasis of the ECM(1).

One of the main features of the disorders falling within the scope of this thematic group is defective elastic fibers, but multiple other symptoms affecting different parts of the body and even organs and vasculature complement the characteristics of these disorders.

With risks of severe ophtalmological, cardiovascular, pulmonary or gastrointestinal complications, the necessity of a mutidisciplinary management of the patients through the structure of the ERN-Skin and with the expertise of the members of this thematic group, is paramount. They contribute to create guidelines and ensure a longterm follow-up with a proper coordination between medical units in order to improve the care of these patients during their lifetime.

Related conditions

Participating Reference Centres