Hunter Syndrome (MPS II)

Mucopolysaccharidosis type 2 (MPS 2) is an X-linked mucopolysaccharidoses. Patients have characteristic coarse facial traits, dysostosis (including atlanto-occipital instability), hernia, and progressive joint contractures. Other systemic manifestations include cardiac valve thickening with variable functional deficits, and obstructive sleep apnea due to storage of mucopolysaccharides in the upper airway system. The clinical picture ranges from severe (the most frequent form) with early psychomotor regression, hydrocepahlus and increased intracranial pressure, to mild with normal cognitive development. Infants are normal at birth, and symptoms appear progressively. Sensory hearing loss contributes to speech delay.

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