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
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice.
