Oculocerebral Syndrome with Hypopigmentation is an extremely rare inherited disorder characterized by the lack of normal color (hypopigmentation) of the skin and hair and abnormalities of the central nervous system that affect the eyes and certain...

Hereditary spastic paraplegia (HSP) is a general term for an expanding group of rare genetic disorders characterized by slowly progressive weakness (paraplegia) and increased muscle tone and stiffness (spasticity) of leg muscles. The age of onset,...

VACTERL association is a nonrandom association of birth defects that affects multiple median and para-median structures. The term VACTERL is an acronym with each letter representing the first letter of one of the more common findings seen in affec...