Williams syndrome (WS) is a rare genetic and neurodevelopmental disorder. WS often presents at birth when the child is discovered to have supr ...

Charcot-Marie-Tooth (CMT) disease, also known as hereditary motor and sensory neuropathies, is a group of inherited motor and sensory peripheral ne ...

Schwachman-Diamond syndrome (SDS) is an autosomal recessive disorder that is the second most common cause of exocrine pancreatic insufficiency afte ...

Hirschsprung disease (HD) is a congenital disorder defined by the absence of ganglion cells (GC) at the Meissner's plexus of the submucosa and Auer ...

Bowman’s capsule is a part of the nephron that forms a cup-like sack surrounding the glomerulus. Bowman’s capsule encloses a space call ...

Peutz-Jeghers syndrome (PJS) is a hereditary cancer syndrome characterized by gastrointestinal (GI) polyposis, mucocutaneous pigmented macules, and ...