ORPHA:87876
Sialidosis type 2
Also called Infantile dysmorphic sialidosis
- Body system
- Bone diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Antenatal, Childhood, Infancy, Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Europe)
- Rarity class
- <1 / 1 000 000
ORPHA:87876 is classified under "Bone diseases" in the Orphanet nomenclature.
Common signs
- Inguinal hernia
- Nephropathy
- Coarse facial features
- Hearing impairment
- Delayed speech and language development
- Dysostosis multiplex