The defective gene is called LYK5. It has a complicated function that is only partly understood. The LYK5 gene product is part of a chemical “relay” or “messaging” system that controls the growth and function of many cells in the body. In<unk> , part of the LYK5 gene is missing, which leads to a complete loss of this signaling function. The LYK5 gene has an important role in normal organ development. Defective organ development that begins during the earliest stages of pregnancy is not treatable and leads to a variety of medical problems throughout life.
Pretzel syndrome
Rapunzel syndrome
Nezelof syndrome
Irlen syndrome
Van der Woude syndrome
Van Wyk and Grumbach syndrome
Fryns-Aftimos syndrome
Wildervanck syndrome