Fanconi Syndrome

Fanconi syndrome is a hereditary disease of childhood characterized by a combination of congenital aplasia of the anterior cortex and scalp, multiple congenital malformations of bones and teeth, renal hypoplasia with renal failure and mental retardation. Named after the Italian physician and scientist Pasquale Fancone, who described a clinical case of his nephew Nicola Fancone (pseudonym of David Gustav Tiberich, 1719–1772).

The patient has an absence of the anterior frontal cortex and other associated cranial defects, including microcephaly, suture defects, wedge-shaped and saddle-shaped skulls, and a defective or completely absent sense of smell. Multiple defects in skeletal development are also observed, such as dysplasia of the hands and feet, especially in cases of high points of confluence of the radius, non-fusion of the arch of the sella turcica, bifurcation of the spine in the sacrococcygeal region, implantation underdeveloped vertebrae, often associated with a depression between the two shoulder blades, anomalies of the upper and lower extremities, shoulder deformity. Other disorders include abnormalities of the dentofacial system, including hypoplasia,