ORPHA:349
Fucosidosis
Also called Alpha-L-fucosidase deficiency
- Body system
- Bone diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Childhood, Infancy
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:349 is classified under "Bone diseases" in the Orphanet nomenclature.
Common signs
- Brachycephaly
- Coarse facial features
- Hearing impairment
- Hypothyroidism
- Dysostosis multiplex
- Hyperhidrosis