Gamuts

Fucosidosis

Fucosidosis is a rare lysosomal storage disorder in which the FUCA1 gene experiences mutations that severely reduce or stop the activity of the alpha-L-fucosidase enzyme. The result is a buildup of complex sugars in parts of the body, which leads to death. [Source: Wikipedia ]

OrphaNet reference
Fucosidosis 
Is A
Glycoprotein storage disease
Subtypes
Fucosidosis type 1
Fucosidosis type 2
May Cause
Abnormal odontoid process
Abnormal scapula
Absent clavicle
Anterior beaked vertebral body
Clavicle dysplasia
Clavicle hypoplasia
Congenital hepatomegaly
Congenital premature craniosynostosis
Congenital splenomegaly
Congenitally abnormal scapula
Coxa valga
Craniosynostosis
Delayed bone age
Eyebrow anomaly
Fragmented, irregular, or sclerotic carpal or tarsal bones
Frontal bossing
Heavy eyebrows
Hepatosplenomegaly in a neonate
Ichthyosis
Odontoid aplasia
Odontoid hypoplasia
Osteosclerosis
Platyspondyly
Retarded skeletal maturation
Shallow glenoid fossa
Small or dysplastic carpal and/or tarsal bones
Thick clavicle
Thick ribs
Thick skull
Thick tubular hand bones
Thin clavicle

Copyright © 2022, Charles E. Kahn, Jr., MD, MS
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