Mucopolysaccharidosis type III, Sanfilippo syndrome: What does coarse facies mean?

Abstract

Background: The purpose of this study was to describe the peculiar facial dysmorphism of Sanfilippo syndrome, the most frequent type of mucopolysaccharidosis with a progressive clinical course of nervous system degeneration. Findings: We performed a retrospective study of the literature and reviewed clinical photographs of fifty published patients with Sanfilippo syndrome, in order to review the principal features of craniofacial anomalies, while attempting to delineate the syndrome phenotype with the specific dysmorphism previously described as “coarse facies”. The present study demonstrates the classical phenotype of the Sanfilippo syndrome in the majority of patients with mild course. We observed that the most common dysmorphic facial features were: head with mild macrocephaly, low anterior hairline, frontal bossing, periocular region with broad and thick eyebrows, eyes widely spaced, midface with wide and depressed nasal bridge, wide nose with anteverted nares, broad, smooth philtrum, wide mouth with thick vermillion of upper lip, and broad jaw. Conclusion: Sanfilippo syndrome is characterized by normal phenotype at birth and at early infancy, when the patient has progressive regression in capabilities by deterioration of gait, speech and behavior and shows a special facial dysmorphism associated with a specific facial pattern. The dysmorphic scoring system may be used to classify patients and get an early, correct clinical diagnosis.