Abderhalden–Kaufmann–Lignac syndrome

Abderhalden–Kaufmann–Lignac syndrome, also called Abderhalden-Lignac-Kaufmann disease or nephropathic cystinosis, is an autosomal recessive renal disorder of childhood comprising cystinosis and renal rickets. It is named for Emil Abderhalden, Eduard Kaufmann and George Lignac.

Affected children are developmentally delayed with dwarfism, rickets and osteoporosis. Renal tubular disease is usually present causing aminoaciduria, glycosuria and hypokalemia.Cysteine deposition is most evident in the conjunctiva and cornea.

Symptoms
Developmental delay
Dwarfism
Rickets
Osteoporosis
Renal tubular disease
Aminoaciduria
Glucose in the urine
Low blood potassium levels
Cysteine deposits in conjunctiva of eye
Cysteine deposits in cornea