Disease - Chondrodysplasia punctata 2, X-linked dominant
Definition
A clinically and genetically heterogeneous disorder characterized by punctiform calcification of the bones. The key clinical features of CDPX2 are chondrodysplasia punctata, linear ichthyosis, cataracts and short stature. CDPX2 is a rare disorder of defective cholesterol biosynthesis, biochemically characterized by an increased amount of 8-dehydrocholesterol and cholest-8(9)-en-3-beta-ol in the plasma and tissues.
Acronym
CDPX2
Synonyms
CHH
Conradi-Hunermann-Happle syndrome
Conradi-Hunermann syndrome
Happle syndrome
Conradi-Hunermann-Happle syndrome
Conradi-Hunermann syndrome
Happle syndrome
Keywords
Disclaimer
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