Please describe your experience with pycnodysostosis.
Share your story with others:
MedicineNet appreciates your comment. Your comment may be displayed on the site and will always be published anonymously.
What is pycnodysostosis?
Pycnodysostosis is perhaps best known as the diagnosis given
retrospectively to the late 19th century French artist Henri de
Toulouse-Lautrec (portrayed by Jose Ferrer in the 1952 film
Pycnodysostosis is a genetic (inherited) disease of the bone.
pattern of inheritance follows the classic rules of genetics
Pycnodysostosis consistently causes short stature. The height
males with the disease is less than 150 cm (59 inches, or 4
feet 1 inch).
Adult females with pycnodysostosis are even shorter.
Pycnodysostosis causes the bones to be abnormally dense
(osteosclerosis); the last bones of the fingers (the distal
be unusually short; and delays the normal closure of the
(sutures) of the skull bones in infancy, so that the "soft
(the fontanel) on top of the head remains widely open.
Pycnodysostosis causes brittle bones which easily break
bones in the legs and feet tend to fracture. The jaw and collar
(clavicles) are also particularly prone to fractures.
The precise frequency of pycnodysostosis has never been
Pycnodysostosis can be classified in the large group of genetic
that are individually uncommon, but collectively important
because of the
sum of their numbers, their heavy impact upon affected
the equally heavy burden they place upon their families.