Hunter’s Syndrome or Mucopolysaccharidosis II (MPS II)

Hunter’s Syndrome or Mucopolysaccharidosis II (MPS II):

Serious genetic disorder that primarily affects males. Interferes with the body’s ability to break down and recycle specific mucopolysaccharides.

Etiology: Enzyme deficiency of iduronate-2-sulfatase. 2,000 people are afflicted with the syndrome.

Diagnosis: Symptoms usually appear between 2 to 4 years of age. Visible signs and symptoms lead to laboratory testing to provide evidence of MPD disorder. Definitive diagnosis made by measuring the iduronate-2-sulfatase (I2S) enzyme activity.

Systemic/medical conditions: Recurrent otitis media, chronic rhinorrhea, enlarged tonsils and adenoids. Coarse facial features, including depressed nasal bridge, thick nostrils and lips. and enlarged tongue. Large head (macrocephaly), possible CNS and delayed development. Joints of fingers, arms and legs held in partial flexion. Conductive or sesorineural deafness, otitis media. Airway obstruction, enlarged adenoids or tonsils, sleep apnea. Abnormal heart valves. Umbilical or inguinal hernia, enlarged abdomen, short stature, dyplasia and joint stiffness.

Oral manifestations: Enlarged adenoids and tongue.

Dental needs: Variable degree of mental retardation may require more time and attention.

Recent info: Elaprase is currently being studied as a medication used for Hunter’s syndrome.