Abderhalden-Kaufmann-Lignac syndrome
Synonyms
3
Overview
Abderhalden-Kaufmann-Lignac syndromeia a rare inherited childhood disorder involving deposits of cystine crystals in various parts of the body, especially 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
Causes
The genetic cause of the disease is not known
Resources
- NIH