X-linked recessive inheritance. Mutations in the FGD1 gene are the only known genetic cause of<unk> . The FGD1 gene provides instructions for making a protein that turns on (activates) another protein called Cdc42, which transmits signals that are important for various aspects of development before and after birth. Mutations in the FGD1 gene lead to the production of an abnormally functioning protein. These mutations disrupt Cdc42 signaling, leading to the wide variety of abnormalities that occur in people with<unk> . Only about 20 percent of people with this disorder have identifiable mutations in the FGD1 gene. The cause of<unk>  in other affected individuals is unknown.
Aarskog–Scott syndrome
Hajdu–Cheney syndrome
Dennie–Marfan syndrome
Witteveen–Kolk syndrome
MEDNIK syndrome
Flynn–Aird syndrome
CAMFAK syndrome
McKittrick-Wheelock syndrome