Table 1.
Major signs and symptoms of Hunter syndrome. Adapted from (Wraith et al., 2008a,b; Keilmann et al., 2012).
| Organ system/anatomical region | Signs and symptoms | Prevalence (%) | Median age of onset (y) |
|---|---|---|---|
| Head and neck | Facial features consistent with Hunter syndrome (facial dysmorphia, coarse facies, macrocephalus, hydrocephalus) | 95 | 2.4 |
| Eye | Papilledema | - | |
| Retinal degeneration | - | ||
| Mouth | Enlarged tongue (macroglossia) | 70 | 3.4 |
| Ear | Otitis media | 72 | 1.9 |
| Ventilation tubes | 50 | 3.5 | |
| Hearing loss | 67 | 4.8 | |
| Hearing aids | 41 | 6.6 | |
| Tinnitus | 2 | 13.3 | |
| Vertigo | 3 | 14.6 | |
| Nose | Nasal obstruction | 34 | 2.0 |
| Rhinorrhea | - | ||
| Throat | Enlarged tonsils/adenoids | 68 | 2.9 |
| Chest/lungs | Dyspnea | - | |
| Chronic cough/bronchitis | - | ||
| Sleep apnea | - | ||
| Difficulty with intubation/inability to intubate | - | ||
| Cardiovascular | Murmur | 62 | 5.8 |
| Arrhythmia | 4 | 6.3 | |
| Tachycardia | 7 | 11.3 | |
| Bradycardia | 2 | 13.9 | |
| Hypertension | 6 | 11.4 | |
| Cardiomyopathy | 8 | 4.8 | |
| Congestive heart disease | 4 | 8.9 | |
| Valve disease | 57 | 6.1 | |
| Myocardial infarction | 0.5 | 44.9 | |
| Peripheral vascular disease | 2 | 9.3 | |
| Gastrointestinal | Abdominal hernia | 78 | 1.3 |
| Hepatosplenomegaly | 89 | 2.8 | |
| Diarrhea | - | ||
| Skin | Hunter lesions (i.e., pebble lesions) | - | |
| Skeletal | Joint stiffness and limited function/contracture | 84 | 3.6 |
| Kyphosis/scoliosis | 39 | 5.0 | |
| Neurological | Hydrocephalus | 17 | 5.8 |
| Seizures | 18 | 9.3 | |
| Swallowing difficulties | 27 | 8.9 | |
| Carpal tunnel syndrome | 25 | 7.9 | |
| Impaired fine motor skills | 33 | 4.0 | |
| Hyperactivity | 31 | 3.5 | |
| Frequent chewing | 13 | 6.8 | |
| Cognitive problems | 37 | 3.2 | |
| Behavioral problems | 36 | 3.7 |