Late Diagnosis of Fanconi-Bickel Syndrome

For: All,

This case report highlights Fanconi–Bickel syndrome, a rare metabolic condition that can look like other genetic or developmental disorders, reminding families of children with 16p11.2 syndromes that persistent growth, kidney, or metabolic concerns may sometimes have an additional or alternative cause and may warrant broader metabolic testing if symptoms don’t fully fit 16p11.2 alone.