Mucopolysaccharidosis II. type

Diseases characterized by the following features:
 * L-iduronosulfate sulfate defatase deficiency
 * accumulation of heparan sulfate
 * men only (GR inheritance)
 * without corneal opacity + thoracolumbar kyphosis
 * OMIM: +300900

heavy form (A)

 * starts between the ages of 1 and 3, has faster progression and people with disabilities die by the age of 15, often due to heart failure
 * macrocephalus, prominent forehead, wide nose, hypertrophic gums, malformed teeth, macroglossia
 * short neck, prominent abdomen as a consequence of hepatosplenomegaly
 * hearing impairment
 * dementia
 * cardiomegaly, coronary artery stenosis

light form (B)

 * manifestations often begin at a younger school age and the disability can live to be 50 years old
 * slow growth, flexion holding fingers of hands that bother while typing retinitis pigmentosa
 * retinitis pigmentosa
 * normal intellect
 * frequent hearing loss

Related articles

 * Mucopolysaccharidosis
 * Hereditary disorders of sugar metabolism
 * Achondroplasia ▪ Tanatophoric dwarfism ▪ Diastrophic dysplasia  ▪ Larsen syndrome