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

More general terms

• chondrodysplasia punctata

Database

• OMIM: https://mirror.omim.org/entry/302960