Syndrome Abderhalden-Kaufmann-Lignac

The Abderhalden-Kaufman syndrome-Lignac is an autosomal recessive genetic disorder.

Affected children have a delayed development due to dwarfism, rickets and osteoporosis. The renal tubules are usually affected, causing aminoaciduria, glucosuria and hypokalaemia.

It is also noted cysteine ​​deposition of the cornea and conjunctiva.