Living with Mucopolysaccharidosis, MPS-II
An inherited condition (Hunter syndrome) that mostly affects boys, causing coarse facial features, airway narrowing, and problems in many organs.
Understanding Mucopolysaccharidosis, MPS-II
Babies show no features at birth. Between ages 2 and 4, they develop full lips, rounded cheeks, a broad nose, and an enlarged tongue. The voice becomes deep and hoarse, and narrowing of the airway causes frequent respiratory infections and pauses in breathing during sleep. Other features include a large head, an enlarged liver and spleen, hernias, thick skin, hearing loss, and carpal tunnel syndrome. The rate of change varies.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Coarse facial features and an enlarged tongue
- Joint stiffness and contractures
- Enlarged liver
- Heart valve differences
- Hearing loss
- Slow growth and sleep disturbance
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, brain and nervous system specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in IDS are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Little People of America, Children's Cardiomyopathy Foundation and World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Little People of America, Children's Cardiomyopathy Foundation, World Craniofacial Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Little People of America and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
This condition is caused by changes in the IDS gene. It is X-linked, which means the gene is on the X chromosome, and it occurs almost only in boys.
Also known as: attenuated mps (subtype; formerly known as mild mps ii); deficiency of iduronate-2-sulfatase; deficiency of iduronate-2-sulphatase; hunter disease; hunter syndrome
Patient organizations
- Little People of AmericaMucopolysaccharidosis, MPS-II · United States
- Hunter PatientsMucopolysaccharidosis, MPS-II · United States
- National MPS SocietyMucopolysaccharidosis, MPS-II · United States
- Project AliveMucopolysaccharidosis, MPS-II · United States
- Project Alive (for Hunter syndrome)Mucopolysaccharidosis, MPS-II · Children's Cardiomyopathy Foundation
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Mucopolysaccharidosis, MPS-II.
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