ORPHA:94086
Blue diaper syndrome
Also called Drummond syndrome, Familial hypercalcemia-nephrocalcinosis-indicanuria syndrome
- Body system
- Inborn errors of metabolism
- Inheritance pattern
- Not documented in Orphadata
- Typical age of onset
- Infancy, Neonatal
- Estimated prevalence
- Unknown (Worldwide)
- Rarity class
- Unknown
ORPHA:94086 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.
Common signs
- Blue urine
- Nephrocalcinosis
- Diarrhea
- Hypercalcemia
- Increased body weight
- Metabolic acidosis