Ciliopathy

Nephronophthisis-related ciliopathy is a group of genetic disorders affecting the function of cilia in kidney cells, leading to kidney diseases such as polycystic kidney disease or chronic kidney conditions. It may also be associated with liver, eye, and neurological abnormalities.

Retinal ciliopathy is a genetic disorder affecting the cilia in retinal cells, leading to progressive vision loss and potential blindness. It is often associated with syndromes like Bardet-Biedl syndrome and Joubert syndrome, and results from mutations in genes that regulate ciliary function in the eye.

Short stature-nail dysplasia-facial dysmorphism-hypotrichosis syndrome is a rare genetic disorder characterized by short stature, nail abnormalities, distinctive facial features, and reduced hair growth or hair loss. This condition may result from genetic mutations affecting bone development, connective tissues, and hair follicles.