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What is Osteogenesis imperfecta congenita, microcephaly, and cataracts?

What is Osteogenesis imperfecta congenita, microcephaly, and cataracts?

  • Osteogenesis imperfecta congenita, microcephaly, and cataracts: A rare genetic connective tissue disorder charactedrized by blue sclerae, cataracts and microcephaly - a lethal form of osteogenesis imperfecta.

Osteogenesis imperfecta congenita, microcephaly, and cataracts is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Osteogenesis imperfecta congenita, microcephaly, and cataracts, or a subtype of Osteogenesis imperfecta congenita, microcephaly, and cataracts, 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 Osteogenesis imperfecta congenita, microcephaly, and cataracts as a "rare disease".
Source - Orphanet

Osteogenesis imperfecta congenita, microcephaly, and cataracts: Introduction

Types of Osteogenesis imperfecta congenita, microcephaly, and cataracts:

Broader types of Osteogenesis imperfecta congenita, microcephaly, and cataracts:

How serious is Osteogenesis imperfecta congenita, microcephaly, and cataracts?

Complications of Osteogenesis imperfecta congenita, microcephaly, and cataracts: see complications of Osteogenesis imperfecta congenita, microcephaly, and cataracts

What causes Osteogenesis imperfecta congenita, microcephaly, and cataracts?

Causes of Osteogenesis imperfecta congenita, microcephaly, and cataracts: see causes of Osteogenesis imperfecta congenita, microcephaly, and cataracts

What are the symptoms of Osteogenesis imperfecta congenita, microcephaly, and cataracts?

Symptoms of Osteogenesis imperfecta congenita, microcephaly, and cataracts: see symptoms of Osteogenesis imperfecta congenita, microcephaly, and cataracts

Complications of Osteogenesis imperfecta congenita, microcephaly, and cataracts: see complications of Osteogenesis imperfecta congenita, microcephaly, and cataracts

Osteogenesis imperfecta congenita, microcephaly, and cataracts: Testing

Diagnostic testing: see tests for Osteogenesis imperfecta congenita, microcephaly, and cataracts.

Misdiagnosis: see misdiagnosis and Osteogenesis imperfecta congenita, microcephaly, and cataracts.

How is it treated?

Doctors and Medical Specialists for Osteogenesis imperfecta congenita, microcephaly, and cataracts: Medical Geneticist ; see also doctors and medical specialists for Osteogenesis imperfecta congenita, microcephaly, and cataracts.
Treatments for Osteogenesis imperfecta congenita, microcephaly, and cataracts: see treatments for Osteogenesis imperfecta congenita, microcephaly, and cataracts

Name and Aliases of Osteogenesis imperfecta congenita, microcephaly, and cataracts

Main name of condition: Osteogenesis imperfecta congenita, microcephaly, and cataracts

Other names or spellings for Osteogenesis imperfecta congenita, microcephaly, and cataracts:

Buyse-Bull syndrome

 

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