McCune-Albright syndrome (MAS)

Rare congenital sporadic disorder defined by the triad of polyostotic fibrous dysplasia of bone (FD), café au lait skin pigmentation, and peripheral precocious puberty (PP).

Polycystic kidney disease (PKD)

Inherited disorder of primary (sensory) cilia characterized by cystic expansion of the kidneys producing progressive kidney enlargement and renal insufficiency, in addition to various extrarenal manifestations.


Genetically heterogeneous group of disorders that are caused by mutations in genes with products that localize to the cilium–centrosome complex. Physiology Cilia structure: Cilia are hair-like organelles projecting from the apical surface of polarized cells. Whether in single-celled organisms or in mammals, the form and function of cilia have been conserved over the course of…

Primary congenital glaucoma (PCG)

Congenital glaucoma is a developmental glaucoma occurring before the age of three years due to an obstruction that prevents adequate drainage of aqueous humor caused by abnormal development of the trabecular meshwork (TM) and anterior chamber angle.