A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (), an autosomal dominant form (Conradi-Hunermann syndrome), and a milder X-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form.
Chondrodystrophia Calcificans Congenita /
Conradi-Hunermann Syndrome /
Dysplasia Epiphysialis Punctata /
Epiphyses, Stippled /