Chondrodysplasia Punctata

**Definition:** 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 (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC), 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.

**Tree numbers:** - C05.116.099.708.195

**Synonyms:** - Chondrodystrophia Calcificans Congenita - Dysplasia Epiphysialis Punctata - Epiphyses, Stippled - Stippled Epiphyses