Dyggve-Melchior-Clausen disease

A spondyloepimetaphyseal dysplasia characterized by clawed fingers, platyspondyly of the spine, abnormalities of the iliac crest, intellectual disability and mucopolysaccharide in the urine that has_material_basis_in homozygous or compound heterozygous mutatio

A spondyloepimetaphyseal dysplasia characterized by clawed fingers, platyspondyly of the spine, abnormalities of the iliac crest, intellectual disability and mucopolysaccharide in the urine that has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q21.

Signs and symptoms

• Carpal bone hypoplasia
• Short metacarpal
• Coarse facial features
• Lumbar hyperlordosis
• Intellectual disability
• Platyspondyly
• Flaring of lower rib cage
• Beaking of vertebral bodies
• Metaphyseal widening
• Rhizomelia

Also known as: DMC disease; pseudo-Morquio disease type I