Main description:

The ciliopathies are a group of rare diseases that often affect multiple systems within the body, and are caused by defects in the function or structure of cilia. When cilia go wrong, there are profound consequences; these are discussed in detail for the first time in Ciliopathies: a reference for clinicians.

The book provides a clinical overview and reference to this newly emergent group of disorders ranging from Alstroem syndrome to putative ciliopathic disorders. Each chapter provides an in-depth discussion on a specific disorder, including the latest scientific research together with a description of its features, and practical guidelines on diagnosis. The authors also examine the evidence for dysfunction of cilia in cancer and more common disorders.

Ciliopathies: a reference for clinicians will appeal to those involved in the care of patients with ciliopathies, including specialists in the fields of nephrology, diabetes, cardiology, and ophthalmology, and non-clinical researchers interested in cilia biology.

Contents:

1. Towards the diagnosis of a ciliopathy ; 2. Alstrom Syndrome ; 3. Jeune Syndrome and the ciliary chondrodysplasias ; 4. Joubert syndrome and Joubert Syndrome related disorders ; 5. Bardet-Biedl Syndrome ; 6. Leber congenital amaurosis and other non-syndromic retinal ciliopathies ; 7. Meckel-Gruber Syndrome ; 8. Nephronophthisis ; 9. Oral-facial-digital syndromes ; 10. Autosomal dominant polycystic kidney disease ; 11. Autosomal recessive polycystic kidney disease ; 12. Primary ciliary dyskinesia ; 13. Usher Syndrome ; 14. Syndromes not yet proven to be ciliopathies