Sanfilippo's syndrome


Also found in: Dictionary, Thesaurus, Encyclopedia.

Sanfilippo's syndrome

 [san-fil´ĭ-pōz]
a form of mucopolysaccharidosis, transmitted as an autosomal recessive trait, resembling hurler's syndrome, except that most of the somatic and skeletal changes are less severe. It occurs in two clinically indistinguishable types: type A, due to deficiency of heparan sulfate sulfamidase, and type B, due to deficiency of N-acetyl-α-d-glucosaminidase. (See Atlas 1, Part F).
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.