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Desbuquois syndrome

Desbuquois syndrome: Introduction

Desbuquois syndrome: A rare condition characterized by short-limbed dwarfism, characteristic facial features and skeletal abnormalities. More detailed information about the symptoms, causes, and treatments of Desbuquois syndrome is available below.

Symptoms of Desbuquois syndrome

Desbuquois syndrome: Related Patient Stories

Desbuquois syndrome: Complications

Read more about complications of Desbuquois syndrome.

Causes of Desbuquois syndrome

Read more about causes of Desbuquois syndrome.

Less Common Symptoms of Desbuquois syndrome

Desbuquois syndrome: Research Doctors & Specialists

Research related physicians and medical specialists:

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Evidence Based Medicine Research for Desbuquois syndrome

Medical research articles related to Desbuquois syndrome include:

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Desbuquois syndrome: Animations

Research about Desbuquois syndrome

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Statistics for Desbuquois syndrome

Desbuquois syndrome: Broader Related Topics

User Interactive Forums

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Definitions of Desbuquois syndrome:

A syndrome with a wide clinical spectrum, consisting of chondrodystrophy, micromelic dwarfism, vertebral and metaphyseal abnormalities, advanced carpotarsal ossification, dislocation of the patellae and hips, glaucoma, and mental deficiency. - (Source - Diseases Database)

Desbuquois syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Desbuquois syndrome, or a subtype of Desbuquois syndrome, 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 Desbuquois syndrome as a "rare disease".
Source - Orphanet


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