User:Ma1098/sandbox

Hecht Scott Syndrome (also known as Fibular aplasia-tibial campomelia-oligosyndactyly syndrome) is a rare genetic disease that causes congenital limb formation. The main characterisation is the aplasia or hypoplasia of bones (mainly the fibula or tibia) of the limb. It is currently presenting in less than 1 in 1 000 000 newborns. It has been known to be more commonly present in males. It was first diagnosed in 2005 by Courtens et al. who recognised the malformations with his present case and four others that were similarly described in literature.

History
Hecht Scott syndrome was first described in literature in 1981 by Jacqueline T. Hecht and Charles I. Scott, Jr. . They outlined the symptoms in a male and a female. Hecht and Scott suggested that there was a genetic etiology as the same symptoms appeared in half-sibs. They further narrowed it down to an "autosomal dominant mutant gene with decreased penetrance or gonadal mosaicism in the mother".

Courtens et al. first published their findings on Fibular Aplasia Tibial Campomelia and Oligosyndactyly (FATCO) in 2005 in the American Journal of Medical Genetics. They identified a newborn male with similar symptoms as described in Hecht and Scott's journal and four other cases. The common finding amongst all five journals was fibular aplasia, tibial campomelia, and oligosyndactly. Courtens et al. then proposed to call this disease fibular-aplasia, tibial-oligosyndactly (FATCO) syndrome. It was also named as Hecht Scott Syndrome due to the authors of the original paper that described the disease.

Symptoms
FATCO Syndrome in patients displays