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Disease characteristics

Excerpted from the GeneReview: Mucopolysaccharidosis Type II
Mucopolysaccharidosis type II (MPS II; also known as Hunter syndrome) is an X-linked multisystem disorder characterized by glycosaminoglycans (GAG) accumulation. The vast majority of affected individuals are male; on rare occasion carrier females manifest findings. Age of onset, disease severity, and rate of progression vary significantly. In those with severe disease, CNS involvement (manifest primarily by progressive cognitive deterioration), progressive airway disease, and cardiac disease usually result in death in the first or second decade of life. In those with attenuated disease, the CNS is not (or is minimally) affected, although the effect of GAG accumulation on other organ systems may be just as severe as in those who have progressive cognitive decline. Survival into the early adult years with normal intelligence is common in the attenuated form of the disease. Additional findings in both forms of MPS II include: short stature; macrocephaly with or without communicating hydrocephalus; macroglossia; hoarse voice; conductive and sensorineural hearing loss; hepatomegaly and/or splenomegaly; dysostosis multiplex and joint contractures including ankylosis of the temporomandibular joint; spinal stenosis; and carpal tunnel syndrome.

Associated genes

Clinical features

  • Umbilical hernia
  • Hirsutism
  • Intellectual disability, profound
  • Papilledema
  • Splenomegaly
  • Short stature
  • Short neck
  • Recurrent otitis media
  • Depressed nasal ridge
  • Kyphosis
  • Coarse facial features
  • Dolichocephaly
  • Dermatan sulfate excretion in urine
  • Heparan sulfate excretion in urine
  • Widely spaced teeth
  • Cognitive impairment
  • Abnormal retinal pigmentation
  • Delayed eruption of teeth
  • Cervical cord compression
  • Seizure
  • Diarrhea
  • Hydrocephalus
  • Malabsorption
  • Macrocephaly
  • Mild short stature
  • Inguinal hernia
  • Abnormality of the tongue
  • Macroglossia
  • Abnormality of the teeth
  • Thick lower lip vermilion
  • Thin vermilion border
  • Mandibular prognathia
  • Hearing impairment
  • Ptosis
  • Optic atrophy
  • Behavioral abnormality
  • Pectus excavatum
  • Dysostosis multiplex
  • Thickened skin
  • Split hand
  • Flexion contracture
  • Limitation of joint mobility
  • Laryngomalacia
  • Hoarse voice
  • Abnormality of the cardiovascular system
  • Congestive heart failure
  • Abnormality of the heart valves
  • Pes cavus
  • Asthma
  • Neurodegeneration
  • Hepatomegaly
  • Tracheal stenosis
  • Tracheobronchomalacia
  • Obstructive sleep apnea
  • Abnormality of the hip bone
  • Intestinal pseudo-obstruction
  • Depressed nasal bridge
  • Abnormality of immune system physiology
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