What are the characteristics of pycnodysostosis?

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What are the characteristics of pycnodysostosis?

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Pycnodysostosis causes abnormalities other than short stature, dense brittle bones, short fingers, and the wide open soft spot of the skull. These other abnormalities involve the head and face, teeth, collar bones, skin, and nails. The front and back of the head are prominent. Within the open sutures of the skull, there may be many small bones (called wormian bones). The midface is less full than usual. The nose is prominent. The jaw can be small. The palate is narrow and grooved. The baby teeth are late coming in and may be lost much later than usual. The permanent teeth can also be slow to appear. The permanent teeth are commonly irregular and teeth may be missing (hypodontia). The collarbones are often underdeveloped and malformed. The skin over the back of the fingers is very wrinkled. The nails are flat and grooved.

Pycnodysostosis also causes problems that may become evident with time. Aside from the broken bones, the last bones of the fingers (the distal phalanges), and the collarbone can undergo slow progressive deterioration. Vertebral defects may permit the spine to curve laterally (resulting in scoliosis). The tooth problems often require orthodontic care and dental cavities are common.

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