Collagenopathy, type 2 alpha 1

Collagenopathy, type 2 alpha 1: Introduction

Collagenopathy, type 2 alpha 1: Collagenopathy, type 2 alpha 1refers to a wide range of conditions that can result from problems with cartilage collagen tissue due to a defect in the COL2A1 gene. Defects in the COL2A1 gene result in defective or reduced collagen production which in turn affects the development of connective tissues including bones. There are a wide range of possible conditions and symptoms. Some of the conditions include: spondyloepiphyseal dysplasia congenita, Stickler Syndrome, hypochondrogenesis and Kneist dysplasia. More detailed information about the symptoms, causes, and treatments of Collagenopathy, type 2 alpha 1 is available below.

Symptoms of Collagenopathy, type 2 alpha 1

• Abnormal bone development
• Short stature
• Enlarged joints
• Curved spine
• Premature arthritis
• more symptoms...»

See full list of 10 symptoms of Collagenopathy, type 2 alpha 1

Causes of Collagenopathy, type 2 alpha 1

Read more about causes of Collagenopathy, type 2 alpha 1.

Collagenopathy, type 2 alpha 1: Broader Related Topics

• Connective tissue conditions
• Genetic conditions
• Congenital conditions
• more types...»

Types of Collagenopathy, type 2 alpha 1

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