Diseases » Pycnodysostosis » Introduction

Pycnodysostosis

Pycnodysostosis: Introduction

Pycnodysostosis: A rare inherited biochemical disorder involving an enzyme (cathepsin k) deficiency which impairs the processes needed to maintain healthy bones. More detailed information about the symptoms, causes, and treatments of Pycnodysostosis is available below.

Symptoms of Pycnodysostosis

• Short stature
• Craniofacial abnormalities
• Delayed tooth eruption
• Aplasia of clavicle
• Scoliosis
• more symptoms...»

See full list of 19 symptoms of Pycnodysostosis

Wrongly Diagnosed with Pycnodysostosis?

• Failure to diagnose Pycnodysostosis
• Undiagnosed: Pycnodysostosis

Pycnodysostosis: Related Patient Stories

• What the heck is this? Molluscum? (pic included)
• skull bone shrinking irregularly on one side of skull pl diagnose..
• what is this?!!!!! (pix included)
• Madelung's Bone Deformity
• Wide variety of scary symptoms
• fatigue, nose bleeds, bone deformity
• Dr. says I have bone overgrowth in skull, Is this Pagets?

Pycnodysostosis: Complications

Review possible medical complications related to Pycnodysostosis:

• Increased risk of fracture
• more complications...»

Causes of Pycnodysostosis

Read more about causes of Pycnodysostosis.

Disease Topics Related To Pycnodysostosis

Research the causes of these diseases that are similar to, or related to, Pycnodysostosis:

• Lysosomal storage disease
• Otosclerosis
• Osteoporosis
• Scoliosis
• Metabolic disorders
• more related diseases...»

Less Common Symptoms of Pycnodysostosis

• Mental retardation
• Scoliosis
• Vertebral arch defects
• more symptoms...»

Read more about symptoms of Pycnodysostosis

Pycnodysostosis: Research Doctors & Specialists

Research related physicians and medical specialists:

• Spinal Specialists:
  • Spinal Cord Injury Medicine
• more specialists...»

Other doctor, physician and specialist research services:

• Rate Your Doctor Online
• Research Your Doctor Online
• Review Patient Surveys About Your Doctor
• Research local specialists including ratings, affiliations, and sanctions.

Pycnodysostosis: Animations

More Pycnodysostosis animations & videos

Statistics for Pycnodysostosis

• Medical statistics for Pycnodysostosis
• Prevalence and incidence statistics for Pycnodysostosis
• Death and Mortality statistics for Pycnodysostosis
• Society statistics for Pycnodysostosis

Pycnodysostosis: Broader Related Topics

• Congenital conditions - metabolic disorders
• Congenital conditions
• Metabolic conditions
• Bone or skeletal conditions
• Musculoskeletal conditions
• Spine conditions
• more types...»

Types of Pycnodysostosis

User Interactive Forums

Read about other experiences, ask a question about Pycnodysostosis, or answer someone else's question, on our message boards:

• I can not get a diagnosis. Please help.
• Tell us your medical story.
• Share your misdiagnosis story.
• What is the best treatment for this?
• See all the forums.

Definitions of Pycnodysostosis:

A form of dwarfism accompanied by fragile bones and bad teeth - (Source - WordNet 2.1)

Pycnodysostosis is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Pycnodysostosis, or a subtype of Pycnodysostosis, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Pycnodysostosis as a "rare disease".
Source - Orphanet

 » Next page: What is Pycnodysostosis?

Medical Tools & Articles:

Tools & Services:

• Bookmark this page
• Symptom Search
• Symptom Checker
• Medical Dictionary

Medical Articles:

• Disease & Treatments Search
• Misdiagnosis Center
• Full list of interesting articles

Forums & Message Boards

• Ask or answer a question at the Boards:
• I cannot get a diagnosis. Please help.
• Tell us your medical story.
• Share your misdiagnosis story.
• What is the best treatment for my condition?
• See all the Boards.

   

homepage | back to top

Search Specialists by State and City

Choose... GENERAL PRACTICE CARDIAC HEALTH WOMEN'S HEALTH CANCER CARE RADIOLOGY MENTAL HEALTH PATHOLOGY EAR, NOSE, THROAT MEDICINE GENETICS NEUROLOGY DIALYSIS CARE SURGERY ORTHOPEDICS/SPORTS MEDICINE CHILDREN'S HEALTH OTHER SPECIALTIES