Fucosidosis

Fucosidosis is a condition that affects many areas of the body, especially the brain. The symptoms of fucosidosis can vary from person to person. Affected individuals have intellectual disabilities that worsen with age. Over time, people with this condition tend to lose skills they had previously learned, such as sitting, standing, walking, or talking. Additional signs and symptoms of fucosidosis can include slow growth, abnormal bone development (dysostosis multiplex), and rigid or stiff muscles (spasticity). People with fucosidosis may also have clusters of enlarged blood vessels that form small, dark red spots on the skin (angiokeratomas) and distinctive facial features that are often described as "coarse." Additional features of fucosidosis can include frequent respiratory infections, an enlarged liver and spleen (hepatosplenomegaly), and seizures.

In the past, fucosidosis has been divided into two types based on the symptoms and age of onset. Type 1 was used to describe the more severe form of the disorder, with symptoms typically appearing in infancy. Type 2 was used to describe cases with milder symptoms and a slower progression. Currently, many researchers consider the condition to be a spectrum with a wide range in severity. 

Other names

Alpha-L-fucosidase deficiency; Fucosidase deficiency

Inheritance pattern

Autosomal recessive

Related genes

FUCA1

Source: MedlinePlus Genetics, U.S. National Library of Medicine.