Abderhalden-Fanconi Syndrome

Abderhalden - Fanconi syndrome

Abderhalden-Fanconi syndrome (Aderholdifanconic syndrome) is a rare genetic disease, transmitted in an autosomal recessive manner, which is inherited on the maternal line.

Named in honor of the Swiss scientists - Herman de Fanconi, a medical historian, pediatrician, and Carl Albert de Aderholdi, a student of I. P. Pavlov.

**Signs of adergaldi-fanconic syndrome:** * pathologies of teeth and bones (usually a wedge-shaped upper jaw); * dysplasia of the bladder and urethra; * deviations in the functioning of the pituitary gland and temporal glands; * changes in the testicles and ovaries; * ectopia or missing eyes; * corneal opacities;

The presence of abnormalities in the facial structure allows an accurate diagnosis to be made. If the doctor notes any of the listed signs, additional research is necessary. Sometimes molecular genetic analysis and ultrasound of the eye orbits are required to confirm the diagnosis. The disease can only be diagnosed after the death of the affected person. During life, skeletal pathologies cannot be detected due to the fragility and fragility of the bones. But as you get older, the signs become more noticeable.