Broad nasal bridge. Broad nasal root. Broadened nasal bridge. Increased breadth of bridge of nose. Increased breadth of nasal bridge. Increased width of bridge of nose. Increased width of nasal bridge. Nasal bridge broad. Wide bridge of nose. Widened nasal bridge. Broad nose. Increased breadth of nose.
Increased nasal breadth. Increased nasal width. Increased width of nose. Aggressive behaviour. Abnormal heart rate. Heart rhythm disorders. Irregular heart beat. Irregular heartbeat. Large central loss of field of vision. Repetitive movements. Repetitive or self-injurious behavior. Cardiac failure.
Cardiac failures. Heart failure. Delayed eruption. Delayed teeth eruption. Delayed tooth eruption. Eruption, delayed. Late eruption of teeth. Late tooth eruption. Watery stool. Long, narrow head. Tall and narrow skull. Flexed joint that cannot be straightened. Hearing defect. Too much cerebrospinal fluid in the brain. IQ less than Hunched back. Round back. Ongoing loss of nerve cells.
High-arched foot. Drooping upper eyelid. Recurrent middle ear infection. Proportionate dwarfism. Short stature, severe. Decreased length of neck. Claw hand. Claw hand deformities. Claw hands. Claw-hand deformities. Increased volume of lower lip. Plump lower lip. Prominent lower lip. Wide-spaced teeth. Widely-spaced teeth. Do you have more information about symptoms of this disease? We want to hear from you. Do you have updated information on this disease?
Inheritance Inheritance. MPS II is inherited in an X-linked recessive pattern, which means that this conditions occurs almost exclusively in males. Females are generally unaffected carriers of this condition.
In a family with more than one affected individual, the mother of the affected males must be a carrier. Diagnosis Diagnosis. Testing usually begins with an affected male relative, if one is available for testing, to determine the disease-causing mutation.
If there is not living affected male relative, testing possible female carriers involves a type of genetic testing called sequence analysis. This test requires a small blood sample and reads through the genetic code of the IDS gene looking for errors. If a mutation is not found using sequence analysis, then two other tests can be performed to look for mutations that cause MPS II. Genetic testing detects most of the mutations that cause MPS II, but may not detect all mutations that cause this condition Therefore, testing cannot definitively determine that a person is not a carrier for MPS II.
Treatment Treatment. Management Guidelines Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.
Idursulfase has been shown to improve walking capacity in these patients National Library of Medicine Drug Information Portal. Find a Specialist Find a Specialist. Healthcare Resources To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. You can also learn more about genetic consultations from MedlinePlus Genetics.
Related Diseases Related Diseases. Conditions with similar signs and symptoms from Orphanet. Differential diagnoses include mucopolysaccharidosis type 1, 6, 7; sialidosis type 2; mucolipidosis type 2 and 3; and multiple sulfatase deficiency. Visit the Orphanet disease page for more information. Research Research.
Clinical Research Resources ClinicalTrials. Click on the link to go to ClinicalTrials. Please note: Studies listed on the ClinicalTrials. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study. Patient Registry The Lysosomal Disease Network is a team of doctors, nurses, research coordinators, and research labs throughout the U.
The Lysosomal Disease Network has a registry for patients who wish to be contacted about clinical research opportunities. Often your child's mental development will become affected between the ages of 2 and 6. Some children are hyperactive and have trouble paying attention or following directions. Your child may also behave aggressively and seem unable to sense danger.
As your child's overall physical functioning declines, these behavior problems tend to become less severe. Recovery times from normal childhood illnesses may be longer for children with Hunter syndrome. As a result, be sure to take general preventive measures — for example, get your child a flu shot and ensure your child receives all necessary vaccinations.
Hunter syndrome is a genetic disorder. Talk to your doctor or a genetic counselor if you're thinking about having children and you or any members of your family have a genetic disorder or a family history of genetic disorders. If you think you might be a carrier, genetic tests are available. If you already have a child with Hunter syndrome, you may wish to seek the advice of a doctor or genetic counselor before you have more children.
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Overview Hunter syndrome is a very rare, inherited genetic disorder caused by a missing or malfunctioning enzyme. Request an Appointment at Mayo Clinic. X-linked inheritance pattern with carrier mother Open pop-up dialog box Close. X-linked inheritance pattern with carrier mother Women can pass down X-linked recessive disorders such as X-linked agammaglobulinemia.
Share on: Facebook Twitter. Show references AskMayoExpert. Rochester, Minn. Mucopolysaccharidosis type II. Genetics Home Reference. Accessed Nov. Mucopolysaccharidoses fact sheet. National Institute of Neurological Disorders and Stroke. Bradley LA, et al. Treatment of mucopolysaccharidosis type II Hunter syndrome : Results from a systematic evidence review.
Current approaches to Hunter syndrome are tailored to specific patients and may include enzyme replacement therapy ERT and targeted symptom management. For Patients. What are lysosomes and what do they do? What causes Hunter syndrome in children? The commitment and compassion with which we care for all children and families is matched only by the pioneering spirit of discovery and innovation that drives us to think differently, to find answers, and to build a better tomorrow for children everywhere.
Kevin B. Churchwell, President and CEO. Connect with Boston Children's Hospital.
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