Pycnodysostosis
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Pycnodysostosis Overview

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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 practicing medicine in Ihlas Marmara Evleri - I. Kisim, Turkey. Turan is rated as an Elite expert by MediFind in the treatment of Pycnodysostosis. They are also highly rated in 50 other conditions, according to our data. Their clinical expertise encompasses Albright's Hereditary Osteodystrophy, Pycnodysostosis, Pseudohypoparathyroidism, Adenoidectomy, and Appendectomy.

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

Nikolaos Ferlias practices practicing medicine in Arhus, Denmark. Mr. Ferlias is rated as an Elite expert by MediFind in the treatment of Pycnodysostosis. He is also highly rated in 2 other conditions, according to our data. His clinical expertise encompasses Pycnodysostosis, Hypercementosis, Micrognathia, and Juvenile Idiopathic Arthritis (JIA).

 
 
 
 
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Experienced in Pycnodysostosis
Dr. Sarah C. Contrucci
Radiology
Experienced in Pycnodysostosis
Dr. Sarah C. Contrucci
Radiology

St. Christopher's Pediatric Associates Radiology - E. Erie Avenue

160 E Erie Ave, 
Philadelphia, PA 
215-427-5234
Languages Spoken:
English

. Dr. Contrucci is rated as an Experienced provider by MediFind in the treatment of Pycnodysostosis. She is also highly rated in 11 other conditions, according to our data. Her clinical expertise encompasses Tracheobronchopathia Osteoplastica, Scoliosis, Short Stature (Growth Disorders), and Idiopathic Short Stature (ISS). Dr. Contrucci is board certified in American Board Of Radiology.

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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