Conradi

Conradi is a surname of German origin, derived from the given name Konrad (Conrad). It is found in German-speaking regions and in communities with German heritage, and it can appear with various spellings. Surnames of this type are typically patronymic, tracing ancestry to an early bearer of the given name.

Conradi is also associated with Conradi-Hünermann syndrome, a rare genetic disorder now more commonly referred to as X-linked chondrodysplasia punctata type 2 (CDPX2). The condition results from mutations in the EBP gene, which encodes emopamil-binding protein involved in cholesterol and sterol biosynthesis. CDPX2 is inherited in an X-linked dominant manner; most reported individuals are female, owing to mosaic expression from X-inactivation, while affected males can occur, typically in mosaic form or with more severe disease. Clinical features at birth often include ichthyosis-like skin changes and skeletal abnormalities, particularly chondrodysplasia punctata, which may present as punctate calcifications of the epiphyses and limb asymmetry. Additional manifestations can include cataracts, growth delays, and joint or skull bone involvement. Diagnosis is based on clinical presentation, radiographic findings, and confirmation by genetic testing for EBP mutations. Management is supportive and multidisciplinary, addressing dermatologic, orthopedic, ophthalmologic, and developmental needs.