What is Osteopetrosis autosomal dominant type 1?

What is Osteopetrosis autosomal dominant type 1?

• Osteopetrosis autosomal dominant type 1: A very rare dominantly inherited syndrome characterized mainly by increased bone density. The increased bone density results because old bone is not resorbed and replaced with new bone. Only 33 cases in 3 families have been reported. In type I, the increased bone density occurs throughout the body with the skull being the most affected. There is no associated increase in risk of fractures. Many cases are asymptomatic.

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

Osteopetrosis autosomal dominant type 1: Introduction

Types of Osteopetrosis autosomal dominant type 1:

Broader types of Osteopetrosis autosomal dominant type 1:

• Genetic conditions
• Musculoskeletal conditions
• Bone or skeletal conditions
• more types...»

What causes Osteopetrosis autosomal dominant type 1?

Causes of Osteopetrosis autosomal dominant type 1: see causes of Osteopetrosis autosomal dominant type 1

What are the symptoms of Osteopetrosis autosomal dominant type 1?

Symptoms of Osteopetrosis autosomal dominant type 1: see symptoms of Osteopetrosis autosomal dominant type 1

Can anyone else get Osteopetrosis autosomal dominant type 1?

More information: see contagiousness of Osteopetrosis autosomal dominant type 1
Inheritance: see inheritance of Osteopetrosis autosomal dominant type 1

Osteopetrosis autosomal dominant type 1: Testing

Diagnostic testing: see tests for Osteopetrosis autosomal dominant type 1.

How is it treated?

Doctors and Medical Specialists for Osteopetrosis autosomal dominant type 1: Medical Geneticist ; see also doctors and medical specialists for Osteopetrosis autosomal dominant type 1.
Treatments for Osteopetrosis autosomal dominant type 1: see treatments for Osteopetrosis autosomal dominant type 1

Name and Aliases of Osteopetrosis autosomal dominant type 1

Main name of condition: Osteopetrosis autosomal dominant type 1

Osteopetrosis autosomal dominant type I, OPTA1

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