Endophenotypes of non-syndromic cleft lip and/or palate.

With an incidence of 1 in 800 births, cleft lip and/or palate (CL/P) is the most frequent facial condition. The etiology of non-syndromic CL/P is multifactorial and remains highly unkown. Endophenotypes can be used to identify more candidate genes. These are characteristics, associated with a multifactorial condition and present in non-affected relatives of patients with non-syndromic CL/P. Therefore they are assumed to be an expression of underlying susceptibility genes. Two possible endophenotypes are investigated in this research: facial morphology and reduced smell capacity. The research is conducted using validated methods and endophenotypes are, if possible, linked to underlying genetics.

Keywords:niet-syndromale schisis

Disciplines:Laboratory medicine, Palliative care and end-of-life care, Regenerative medicine, Other basic sciences, Other health sciences, Nursing, Other paramedical sciences, Other translational sciences, Other medical and health sciences