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Chondrodysplasia Punctata

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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.  spell entry term name Hunermann with an umlaut in titles & translations; CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC is also available   
Examples Chondrodysplasia Punctata, Rhizomelic 		Other names Stippled Epiphyses; Epiphyses, Stippled; Dysplasia Epiphysialis Punctata; Conradi-Hunermann Syndrome; Chondrodystrophia Calcificans Congenita; Syndrome, Hunermann-Conradi; Syndrome, Happle; Syndrome, Conradi-Hunermann; Hunermann Conradi Syndrome; Conradi Hunermann Syndrome; Hunermann-Conradi Syndrome; Happle Syndrome; Conradi Hunermann Happle Syndrome
 
SubstanceCAS Registry & nameCategoriesSource
Chondrodysplasia punctata 2, X-linked dominant  0   *Chondrodysplasia Punctata *Genetic Diseases, X-Linked.
Pacman dysplasia  0   *Chondrodysplasia Punctata Osteoclasts.
Chondrodysplasia punctata, brachytelephalangic  0   *Chondrodysplasia Punctata *Genetic Diseases, X-Linked.
Astley-Kendall syndrome  0   *Chondrodysplasia Punctata *Dwarfism *Osteogenesis Imperfecta.

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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