Connective tissue disorders
Placing genetics at the core of medical decisions
Connective tissue disorders genetic testing is used to identify the monogenic cause of heritable disorders of the connective tissue, the skeleton and the vasculature. This heterogeneous group includes , the , , and , in which collagen, elastin and TGF-beta signalling are affected. It also spans the skeletal dysplasias such as and, the craniosynostosis syndromes such as and , disorders of bone fragility, and , which the 2023 nosology of genetic skeletal disorders groups by disease mechanism. Most conditions are inherited in an autosomal dominant manner, though autosomal recessive and X-linked forms also occur. Many share overlapping features such as altered stature, aortic disease, joint laxity, skin changes, and eye findings. A clinical picture alone is therefore often too limited to reach a precise diagnosis. Because the syndromic aortic and connective tissue conditions overlap so widely, multigene panel testing has become the standard diagnostic strategy in patients with syndromic features or a positive family history. A confirmed diagnosis clarifies the specific condition, supports cascade screening of at-risk relatives, and helps align surveillance and care with the natural history of each disorder.
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