Frank-Ter Haar syndrome

Frank-Ter Haar syndrome is a rare disease characterized by abnormalities that affect bone, heart and eye development, and children born with it usually die very young. The main features are a flat head, wide fontanelles, a prominent forehead, widely spaced and prominent eyes, enlarged corneas, optic disc edema, full cheeks, a small chin, bowing of the long bones of the arms or legs, and finger deformities. The disease has been linked to an inherited mutation in the gene that codes for the protein Tks4, which helps form podosomes, the cell projections that allow cells to migrate, and a mouse lacking the Tks4 gene shows all of the symptoms. It was first described in 1973 by researchers led by Yitzchak Frank, and in 1982 the Dutch pediatrician Ben ter Haar reported three similar patients. There is no treatment.