Fanconi-Debray-De Toni Syndrome

Fanconi-Debreu-De Tony syndrome is a rare hereditary disease characterized by congenital malformations of the kidneys and urinary tract, skeletal and facial abnormalities.

The syndrome is named after the three doctors who first described the disease: Swiss pediatrician Guido Fanconi, French pediatrician Andre Debreu and Italian pediatrician Giuseppe De Toni.

Main symptoms of the syndrome:

1. Malformations of the kidneys and urinary tract - hypoplasia or aplasia of the kidneys, bilateral hydronephrosis, ureteral strictures.

2. Skeletal anomalies - underdevelopment of the thumb, anomalies of the ribs and vertebrae.

3. Facial anomalies - low-set ears, midface hypoplasia, microcephaly.

4. Delayed growth and development.

5. Increased susceptibility to infections and malignancies.

Diagnosis of the syndrome is based on the clinical picture and data from instrumental studies. Treatment is mainly symptomatic and aimed at correcting renal function and preventing complications. The prognosis is generally unfavorable.

Fanconi-Debre-De Toni syndrome (FDDS) is a rare genetic disease characterized by multiple malformations of the skeleton, heart, kidneys, liver, gastrointestinal tract, skin and other organs. FDDS is the result of a combination of three genetic disorders - mutations in the FANCA, FANCC and FANCD2 genes.

Fanconi syndrome (FS) is a group of hereditary diseases that are characterized by defects in the development of bones and internal organs. The syndrome was named after the Swiss pediatrician G. Fanconi, who described it in 1905.

Debreu syndrome (DS) is another group of hereditary disorders that is characterized by defects in the development of various organs and systems. This syndrome was first described by the French pediatrician A.R. Debra in 1933.

De Toni-Fanconi syndrome (DFS) is a rare genetic disorder that affects the bones, kidneys, liver, heart, brain, eyes and other organs. It is named after the Italian pediatrician Giovanni De Toni, who described the condition in 1965.