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?
Dr. Hani N. Haddad
Obstetrics and Gynecology
Dr. Hani N. Haddad
Obstetrics and Gynecology
3550 Main St, Suite 302, 
Springfield, MA 
 (39.1 mi)
413-781-8290
Languages Spoken:
English
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Accepting New Patients

Hani Haddad is an Obstetrics and Gynecologist in Springfield, Massachusetts. Dr. Haddad and is rated as an Experienced provider by MediFind in the treatment of Pycnodysostosis. His top areas of expertise are Menorrhagia, Galactocoele, Melorheostosis, Osteopenia, and Hormone Replacement Therapy (HRT). Dr. Haddad is currently accepting new patients.

Dr. Christopher Mileto
Orthopedics
Dr. Christopher Mileto
Orthopedics

Orthopedic Assoc Of Long Island Physicians And Medical Group PLLC

6144 Route 25a, Suite 5, 
Wading River, NY 
 (45.0 mi)
631-689-6698
Languages Spoken:
English
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Christopher Mileto is an Orthopedics provider in Wading River, New York. Dr. Mileto and is rated as an Experienced provider by MediFind in the treatment of Pycnodysostosis. His top areas of expertise are Osteoarthritis, Pycnodysostosis, Acute Pain, Infectious Arthritis, and Hip Replacement.

 
 
 
 
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Dr. Giuseppe Cruciata
Neuroradiology | Radiology
Dr. Giuseppe Cruciata
Neuroradiology | Radiology

Stony Brook Radiology, University Faculty Practice Corporation

100 Nicolls Rd, 
Stony Brook, NY 
 (48.7 mi)
631-638-2121
Languages Spoken:
English

Giuseppe Cruciata is a Neuroradiologist and a Radiologist in Stony Brook, New York. Dr. Cruciata and is rated as an Experienced provider by MediFind in the treatment of Pycnodysostosis. His top areas of expertise are Cerebral Arteriovenous Malformation, CAPOS Syndrome, Stroke, and Aseptic and Alopecic Nodules of Scalp (AANS).

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