Other terms
Stippled Epiphyses,Epiphyses, Stippled,Chondrodystrophia Calcificans Congenita,Dysplasia Epiphysialis Punctata,Hunermann-Conradi Syndrome,Hunermann Conradi Syndrome,Syndrome, Hunermann-Conradi,Conradi-Hunermann Syndrome,Conradi Hunermann Syndrome,Syndrome, Conradi-Hunermann,Happle Syndrome,Syndrome, Happle,Conradi Hunermann Happle Syndrome
Description
Chondrodysplasia Punctata: 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.
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