ORPHA:763
Pycnodysostosis
Also called Pyknodysostosis
- Body system
- Inborn errors of metabolism
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Adolescent, Adult, Childhood, Infancy
- Estimated prevalence
- 1-9 / 1 000 000 (Worldwide)
- Rarity class
- 1-9 / 1 000 000
ORPHA:763 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.
Common signs
- Brachydactyly
- Frontal bossing
- Persistent open anterior fontanelle
- Obtuse angle of mandible
- Delayed pneumatization of the mastoid process
- Disproportionate short-limb short stature