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chondrodysplasia punctata X-linked dominant type 2 (Conradi-Hunermann-Happle syndrome)
Epidemiology:
- rare
Pathology: -defective cholesterol biosynthesis
- increased amount of 8-dehydrocholesterol & cholest-8(9)-en-3-beta-ol in the plasma & tissues
Genetics:
- X-linked dominant
- associated with defects in EBP
Clinical manifestations:
- chondrodysplasia punctata
- linear ichthyosis
- cataracts
- short stature
Laboratory:
- 8-dehydrocholesterol in serum/plasma
General
chondrodysplasia punctata
Database Correlations
OMIM 302960
References
OMIM :accession 302960