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Important
General DiscussionPyknodysostosis is a rare disorder that is inherited as an autosomal recessive genetic trait. This disorder is characterized by short stature, increased bone density (osteosclerosis/osteopetrosis), underdevelopment of the tips of fingers with absent or small nails, fragile bones that may fracture easily, abnormal or absent collarbone (clavicle), and skull abnormalities with a protruding forehead and bulge on the back of the skull caused by delayed suture closure. Supporting OrganizationsAmeriFace
Children's Craniofacial Association
Genetic and Rare Diseases (GARD) Information Center
Hide & Seek Foundation for Lysosomal Disease Research
NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
For a Complete ReportThis is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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