Pycnodysostosis Overview

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Learn About Pycnodysostosis

What is the definition of Pycnodysostosis?
Pycnodysostosis impacts bone growth and is present from birth. Symptoms include a large head and high forehead, undeveloped facial bones, and short fingers and toes. People with Pycnodysostosis may have short stature, dental abnormalities, brittle bones, and delayed closure of the skull bones. Bones may become more brittle with age. Other complications like trouble breathing during sleep (sleep apnea) and bone infections may occur. Pycnodysostosis is caused by a CTSK gene that is not working correctly and inherited in an autosomal recessive pattern. The diagnosis of Pycnodysostosis is based on clinical examination and X-ray findings, and is confirmed by genetic testing.
What are the alternative names for Pycnodysostosis?
  • Pycnodysostosis
  • PKND
  • PYCD
  • Pyknodysostosis
Who are the top Pycnodysostosis Local Doctors?
Elite in Pycnodysostosis
Serap D. Turan
Elite in Pycnodysostosis
Serap D. Turan
Ihlas Marmara Evleri - I. Kisim, TR 

Serap Turan practices in Ihlas Marmara Evleri - I. Kisim, Turkey. Turan is rated as an Elite expert by MediFind in the treatment of Pycnodysostosis. Their top areas of expertise are Albright's Hereditary Osteodystrophy, Pycnodysostosis, Pseudohypoparathyroidism, Adenoidectomy, and Appendectomy.

Elite in Pycnodysostosis
Judith S. Renes
Elite in Pycnodysostosis
Judith S. Renes
Dordrecht, ZH, NL 

Judith Renes practices in Dordrecht, Netherlands. Ms. Renes is rated as an Elite expert by MediFind in the treatment of Pycnodysostosis. Her top areas of expertise are Pycnodysostosis, Small for Gestational Age, Russell-Silver Dwarfism, and Idiopathic Short Stature (ISS).

 
 
 
 
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Elite in Pycnodysostosis
Nikolaos Ferlias
Elite in Pycnodysostosis
Nikolaos Ferlias
Arhus, DK 

Nikolaos Ferlias practices in Arhus, Denmark. Mr. Ferlias is rated as an Elite expert by MediFind in the treatment of Pycnodysostosis. His top areas of expertise are Pycnodysostosis, Hypercementosis, and Micrognathia.

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What are the latest Pycnodysostosis Clinical Trials?
Clinical Validation of a Self-questionnaire in Adults With Osteoporosis
Clinical Validation of a Self-questionnaire in Adults With Osteoporosis
Enrollment Status: Recruiting
Publish Date: August 08, 2025
Intervention Type: Other

Summary: Osteoporosis is a multifactorial disease in which genetic predispositions play a key role in its development. A better understanding of family history and clinical manifestations among first- and second-degree relatives can help improve early detection and personalized care for at-risk patients. To this end, we will test a self-administered questionnaire previously developed by our research team. ...

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Who are the sources who wrote this article ?

Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center