| MUCOPOLYSACCHARIDOSIS II; HUNTER SYNDROME | |
| MPS2 | |
|
309900
OMIM = Online Mendelian Inheritance of Men | |
|
580 | |
| Iduronate-2-sulfatase | |
| 3.1.6.13 | |
| rare (1:100000, 1:70000 Israel) X-linked recessive 2 types: - type A (severe) - type B (mild) | |
| Laboratory findings | Dermatan sulfate inc (urine) Heparan sulfate inc (urine) Iduronide-2-sulfate sulfatase dec (fibroblasts) Mucopolysaccharides inc (urine) |
| Symptoms | inguinal hernia apnea behavior, hyperactive, restless cardiomyopathy carpal tunnel syndrome coarse facial features contractures, joints diarrhea dysostosis multiplex hearing defect, deafness hepatomegaly (large liver) hip dysplasia, hip dyslocation hydrocephalus macrocephaly (large calvaria, >2 SD for age) mental retardation otitis media, recurrent restrictive lung disease seizures skoliosis, kyphoskoliosis splenomegaly (large spleen) swallowing difficulties valvular heart disease coronary heart disease dwarfism dysmorphism early death growth retardation, poor growth hypertrichosis infections (respiratory tract/system) infections (severe or recurrent) joint stiffness macroglossia, large/protuding tongue mongolian spots neurological deterioration obstructive airway disease onset, childhood retinal or macular degeneration short stature skin, abnormal skin, thickened thick or large lips umbilical hernia X-ray, abnormalities |