A type of anorectal malformation in which the anus is not present and the rectum, instead, connects to the perineum.
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Institution: Laboratorio de Citogenetica, Instituto Nacional de Pediatría, Mexico City, México Area of expertise: Medical genetics, dysmorphology. My work: I am a medical geneticist from Mexico City, introduced to the field of Fanconi anemia (FA) by my mentor, Dr. Sara Frias, whom...
The Retreat for Adults with FA takes place every fall in a different city. It’s an opportunity for individuals with FA ages 18+ to meet other adults with FA, learn about medical and research updates, attend support sessions, and participate...
People with rare diseases like FA often rely on a combination of healthcare programs and insurance coverage. Any change that reduces access to care or increases out-of-pocket costs can have real-world consequences for our community.