Ciliopathies

The term „ciliopathy“ relates to the functional defect of primary (non-motile) or motile cilia. The so-called “ciliopathies” represent a focus at our institute; therefore, please do not hesitate to contact us in case of questions beyond routine diagnostics.

Dysfunction of ciliary genes and proteins can affect virtually any tissue and organ and can be associated with a wide range of human disorders, from developmental malformation syndromes to late-onset dysfunction of singular organs, with particularly frequent affection of the retina and the kidneys.

Examples of primary ciliopathies are

• Joubert syndrome (JBTS)
• Meckel syndrome (MKS)
• Bardet-Biedl syndrome (BBS)
• Jeune asphyxiating thoracic dystrophy (JATD)
• Orafaciodigital syndrome (OFD)
• Leber congenital amaurosis (LCA), retinal dystrophies (some subtypes)
• Usher syndrome (USH)
• Senior Løken syndrome (SLS)
• Left-right asymmetries
• Polydactyly
• Nephronophthisis (NPHP)
• Polycystic kidney disease (PKD)
• Primary ciliary dyskinesia (PCD)