Pycnodysostosis

OMIM number: 265800

Comments closing date: 28/11/2024

Pycnodysostosis is a rare genetic condition
characterised by short stature, increased density
of the bones (osteosclerosis/osteopetrosis), and
brittle bones. Affected individuals are prone to
repeated fractures. 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. There is variability in the
severity of symptoms between patients. There is
no cure for the condition and treatment only
addresses the symptoms found in each patient
and may include orthopaedic monitoring, treatment
of fractures, appropriate dental care, and
craniofacial surgery.

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