Pycnodysostosis (PYCD), also spelled pyknodysostosis, is an inherited disease that causes the bones to be abnormally dense while also creating certain bone deformities.
The bones of people with PYCD are brittle and can break easily, even under minimal stress. Fractures are common in affected people's legs, feets, jaws, and collar bone.
People with the disease are abnormally short—less than five feet in height and often much shorter. They are susceptible to a curved spine (scoliosis), and the collarbone is often deformed as well. People with PYCD also have significantly shorter finger bones and their nails are small or absent.
People with pycnodysostosis often have characteristic features including a prominent nose, protruding forehead, and small jaw. Their teeth can be late in coming in, may be missing or irregular, and are prone to cavities. The skull is typically deformed, with the “soft spot” on the top of the head failing to close.
Many scientists believe that 19th-century French painter Henri de Toulouse-Lautrec had PYCD, though the disease was unknown at the time.
The frequency of PYCD is unknown, however the disease is very rare.
There is no treatment for the cause of PYCD, however injections of growth hormone have been shown to improve height. Plastic surgery can help correct deformities of the face and jaw.
Dental care will be necessary as people with PYCD are prone to cavities and may be missing teeth. Orthodontia is an option for improving the overall look to the teeth.
People with PYCD need to be careful with their bodies to avoid bone fractures. Exercise should be limited to low-impact activities such as swimming.
The prognosis for a person with PYCD is generally good. He or she will be prone to fractures, but with care, lifespan can be normal or near-normal.
A non-profit dedicated to improving the quality of life for people with facial differences and their families.
13140 Coit Road, Suite 517
Dallas, TX 75240
Phone: (800) 535.3643
Secondary Phone: (214) 570-9099
An organization that assists children and adults who have craniofacial disorders by providing newsletters, information about craniofacial conditions, networking opportunities, and financial support for non-medical expenses related to treatment at craniofacial centers.
P. O. Box 11082
Chattanooga, TN 37401
Phone: (800) 332-2373