National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Pyknodysostosis is not the name you expected.
Pyknodysostosis 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.
- PO Box 751112
- Las Vegas, NV 89136
- Tel: (702)769-9264
- Fax: (702)341-5351
- Tel: (888)486-1209
- Email: firstname.lastname@example.org
- Website: http://www.ameriface.org
Children's Craniofacial Association
- 13140 Coit Road
- Suite 517
- Dallas, TX 75240
- Tel: (214)570-9099
- Fax: (214)570-8811
- Tel: (800)535-3643
- Email: contactCCA@ccakids.com
- Website: http://www.ccakids.com
Genetic and Rare Diseases (GARD) Information Center
- PO Box 8126
- Gaithersburg, MD 20898-8126
- Tel: (301)251-4925
- Fax: (301)251-4911
- Tel: (888)205-2311
- Website: http://rarediseases.info.nih.gov/GARD/
Hide & Seek Foundation for Lysosomal Disease Research
- 6475 East Pacific Coast Highway Suite 466
- Long Beach, CA 90803
- Tel: (877)621-1122
- Fax: (866)215-8850
- Email: email@example.com
- Website: http://www.hideandseek.org
NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
- Information Clearinghouse
- One AMS Circle
- Bethesda, MD 20892-3675
- Tel: (301)495-4484
- Fax: (301)718-6366
- Tel: (877)226-4267
- Email: NIAMSinfo@mail.nih.gov
- Website: http://www.niams.nih.gov/
For a Complete Report
This 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".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Last Updated: 3/31/2008
Copyright 2005 National Organization for Rare Disorders, Inc.
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