Skip to Content
Medical Term:

Dyggve-Melchior-Clausen syndrome

Pronunciation: di-giv′ĕ mel′kē-ōr klaws′ĕn

Definition: a skeletal dysplasia that has some clinical resemblance to Morquio syndrome but without mucopolysacchariduria; characterized by mental retardation, short-trunk dwarfism, progressive sternal bulging, restricted joint mobility, waddling gait, and radiographic findings of irregular iliac crests and flattening of vertebral bodies; autosomal recessive inheritance. There is an X-linked form [MIM*304950].