Hunter syndrome can be very difficult to diagnose because it affects each person differently. The signs and symptoms can appear at different times, and many can be overlooked as common childhood complaints. These include:

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Recurrent ear infections

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Frequent colds

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Persistent runny nose

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Recurrent watery diarrhea

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Umbilical hernia

As these signs and symptoms are quite common among all infants, they are not likely to lead a doctor to make a diagnosis of Hunter syndrome right away. Your doctor may advise that the symptoms you report will resolve with age. Listen to the advice that your doctor gives you but be sure to speak to them again if symptoms persist longer than expected or a unique combination of these symptoms is present.

It can also be worthwhile to make note of the frequency and severity of any symptoms you do notice, in order to give your doctor as accurate a picture as possible of the situation. This can help to confirm either that these symptoms are not caused by Hunter syndrome or aid an earlier diagnosis.

In addition to the common childhood complaint symptoms listed above, other early symptoms to look out for include:

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Enlarged tongue and tonsils

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Joint stiffness

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Enlarged abdomen
(due to an enlarged liver and spleen)

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Coarse facial features
(prominent forehead, thick brow, flat nose, flared nostrils, thick lips, and large jowls)

While it is important to be aware of the common signs and symptoms of Hunter syndrome, try not to jump to any conclusions as the presence of one or more of these is not conclusive of Hunter syndrome. One symptom in isolation might not be enough to suspect Hunter syndrome, but a unique combination could prompt you to speak to a doctor. Speak to your healthcare professional if you are concerned about any of these symptoms.

It is important to note that the rate of progression may differ for each Hunter syndrome patient. Hunter syndrome symptoms are generally not apparent at birth but may present earlier for patients with a more severe form of the condition, becoming noticeable between 2 and 4 years of age. Neurological symptoms, resulting from the central nervous system (CNS) being affected, may also only be present in patients with a more severe form of the condition. The severe end of the spectrum comprises around two-thirds of patients.

In contrast, on the attenuated side of the spectrum, symptoms can appear later in life.

As the build up of GAGs continues throughout the cells of the body, signs of Hunter syndrome become more visible. Possible later signs and symptoms of Hunter syndrome include:

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A large head

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Short stature

Hunter syndrome large head boy face icon

Pebbly, ivory-colored skin lesions
(found mainly on upper arms, legs, and back)

Hearing loss

Hearing loss

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Respiratory infections

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Sleep apnea

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Limited lung capacity

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Heart disease

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Skeletal changes called dysostosis multiplex

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Curvature of the spine called scoliosis and kyphosis

Hunter syndrome two bones stiff joint icon

Joint stiffness and limited range of motion
(may often walk on toes)

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Curled fingers

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Developmental and speech delays*

*Severe type only

It can be distressing to hear about all the possible symptoms that may develop over time. However, it is important to remember that everyone is affected differently by Hunter syndrome, meaning all of the symptoms listed may not be applicable to you or your loved one. As multiple organ systems can be affected, each person with Hunter syndrome will have a dedicated team of specialists that can help with the management of specific symptoms and anticipate any symptoms that may develop over time.


Additional Signs and Symptoms

Onset of Symptoms

Coarse facial features Joint stiffness and restricted range of motion patients often walk on toes due to tight heel cords and stiffness Claw-like hands Developmental and/or speech delay—in neuropathic phenotype only Recurrent respiratory infections Chronic runny nose Upper airway restriction which may cause sleep apnea Enlarged liver and spleen Carpal tunnel surgeries Tympanostomies Hearing loss Heart murmur Recurrent ear infections Eye symptomsloss of vision, optic nerve involvement Umbilical and inguinal hernias, which often require surgery Recurrent watery diarrhea, which is often resistant to medication Characteristic pebbling of skin Curved spine Boy full body diagram with organs and tissues.