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Hunter syndrome in Child
Other Resources UpToDate PubMed

Hunter syndrome in Child

Contributors: Jennifer Vermilion MD, Jamie Adams MD, Richard L. Barbano MD, PhD
Other Resources UpToDate PubMed

Synopsis

Hunter syndrome (mucopolysaccharidosis II, or MPS II) is an X-linked recessive lysosomal storage disease caused by a deficiency in iduronate-2-sulfatase that leads to an accumulation of heparan sulfate and dermatan sulfate in various organs. It is a rare disorder, with an estimated prevalence of 1 in 170 000 live births. There is a higher incidence in the Ashkenazi and Sephardic Jewish populations. Hunter syndrome predominantly affects males but has been described in females, often secondary to skewed X chromosome inactivation.

There is a broad phenotypic spectrum of severity. The severe form is most common, with symptom onset typically between 2 and 4 years of age. Signs and symptoms include distinct, coarse facial features, intellectual disability, developmental delay, hepatosplenomegaly, skeletal deformities, joint stiffness, carpal tunnel syndrome, vision changes, recurrent ear infections, and progressive hearing loss. Hydrocephalus or spinal cord compression may develop. Patients typically develop valvular heart disease and obstructive airway disease.

Average life expectancy is about 10-15 years. The attenuated form of Hunter syndrome may have minimal neurologic symptoms, and these patients often have normal intelligence.

Codes

ICD10CM:
E76.1 – Mucopolysaccharidosis, type II

SNOMEDCT:
70737009 – Mucopolysaccharidosis type II

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Last Reviewed:10/23/2018
Last Updated:01/17/2022
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Hunter syndrome in Child
A medical illustration showing key findings of Hunter syndrome : Hepatosplenomegaly, Hearing loss, Hoarseness, Joint stiffness, Developmental delay
Clinical image of Hunter syndrome - imageId=1816319. Click to open in gallery.  caption: 'Smooth, slightly hypopigmented papules and small plaques on the arm.'
Smooth, slightly hypopigmented papules and small plaques on the arm.
Copyright © 2024 VisualDx®. All rights reserved.