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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.

Synonym(s): Chondrodystrophia Calcificans Congenita / Conradi-Hunermann Syndrome / Dysplasia Epiphysialis Punctata / Epiphyses, Stippled / Stippled Epiphyses / Conradi Hunermann Happle Syndrome / Happle Syndrome / Hunermann-Conradi Syndrome / Conradi Hunermann Syndrome / Hunermann Conradi Syndrome / Syndrome, Conradi-Hunermann / Syndrome, Happle / Syndrome, Hunermann-Conradi

Narrow term(s):
   Chondrodysplasia Punctata, Rhizomelic

MeSH 2010 © U.S. National Library of Medicine®.
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  Web resources for "Chondrodysplasia Punctata"
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view the HON description of the site HONcode - Orphanet: Non rhizomelic chondrodysplasia punctatawww.orpha.net 7
view the HON description of the site HONcode - Eyes and vision - Genetics Home Referenceghr.nlm.nih.gov 3
view the robot description of the site rare-diseases — National Organization for Rare Disorderswww.rarediseases.org  
 
 
Broader term(s): - Osteochondrodysplasias - Bone Diseases, Developmental - Bone Diseases - Musculoskeletal Diseases
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  Scientific articles from MEDLINE for "Chondrodysplasia Punctata"
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Subheadings: complications / diagnosis / embryology / epidemiology / etiology / metabolism / microbiology / surgery / therapy

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Subheadings: complications / diagnosis / embryology / epidemiology / etiology / metabolism / microbiology / surgery / therapy


  Broader term(s):
      Diseases
          Musculoskeletal Diseases
              Bone Diseases
                  Bone Diseases, Developmental
                      Osteochondrodysplasias 

MeSH 2010 © U.S. National Library of Medicine®.

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