Pycnodysostosis

Definition

Pycnodysostosis is a genetic lysosomal disease characterized by short stature, increased density of the bones (osteosclerosis/osteopetrosis), and brittle bones. Other features may include underdevelopment of the tips of the fingers with absent or small nails, an abnormal collarbone (clavicle), distinctive facial features including a large head with a small face and chin, underdeveloped facial bones, a high forehead, and dental abnormalities.Pycnodysostosis is an autosomal recessive condition caused by mutations in the gene that codes the enzyme cathepsin K (CTSK) on chromosome 1q21. The diagnosis of pycnodysostosis is based on physical features and X-ray findings. Molecular genetic testing is available. Treatment should address the symptoms found in each patient and may include orthopedic monitoring, treatment of fractures, appropriate dental care, and craniofacial surgery.

Also known as pycnodysostosis, Pyknodysostosis — per MONDO

Also identified as

• DOID 0080038 per MONDO
• MESH D058631 per MONDO
• NCIT C131187 per MONDO
• OMIM 265800 per MONDO
• Orphanet 763 per MONDO
• SCTID 89647000 per MONDO
• UMLS C0238402 per MONDO

Affected Organs