[Mucopolysaccharidosis].
The different types of mucopolysaccharidosis, due to a congenital absence of a lysosomial dehydrolysase acid, are the origin of facial deformities. Precise diagnosis depends on the results of biochemical and histological examinations.
D005146:Facial Asymmetry / Q000151:congenital / Q000209:etiology; D006801:Humans; D007068:Iduronidase / Q000172:deficiency; D009083:Mucopolysaccharidoses / Q000175:diagnosis* / Q000201:enzymology / Q000473:pathology; D016532:Mucopolysaccharidosis II
D007068:Iduronidase
Mucopolysaccharidoses.