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What is Spondyloepimetaphyseal dysplasia, hypotrichosis?

What is Spondyloepimetaphyseal dysplasia, hypotrichosis?

  • Spondyloepimetaphyseal dysplasia, hypotrichosis: An inherited bone growth disorder characterized by short stature, bone abnormalities and vision problems. An additional feature of this condition is the reduced amount of hair (hypotrichosis). The bone abnormalities are due to a genetic mutation that affects the development of bone and connective tissue.

Spondyloepimetaphyseal dysplasia, hypotrichosis: Introduction

Types of Spondyloepimetaphyseal dysplasia, hypotrichosis:

Broader types of Spondyloepimetaphyseal dysplasia, hypotrichosis:

How serious is Spondyloepimetaphyseal dysplasia, hypotrichosis?

Complications of Spondyloepimetaphyseal dysplasia, hypotrichosis: see complications of Spondyloepimetaphyseal dysplasia, hypotrichosis

What causes Spondyloepimetaphyseal dysplasia, hypotrichosis?

Causes of Spondyloepimetaphyseal dysplasia, hypotrichosis: see causes of Spondyloepimetaphyseal dysplasia, hypotrichosis

What are the symptoms of Spondyloepimetaphyseal dysplasia, hypotrichosis?

Symptoms of Spondyloepimetaphyseal dysplasia, hypotrichosis: see symptoms of Spondyloepimetaphyseal dysplasia, hypotrichosis

Complications of Spondyloepimetaphyseal dysplasia, hypotrichosis: see complications of Spondyloepimetaphyseal dysplasia, hypotrichosis

Onset of Spondyloepimetaphyseal dysplasia, hypotrichosis: infancy

Can anyone else get Spondyloepimetaphyseal dysplasia, hypotrichosis?

More information: see contagiousness of Spondyloepimetaphyseal dysplasia, hypotrichosis
Inheritance: see inheritance of Spondyloepimetaphyseal dysplasia, hypotrichosis

Spondyloepimetaphyseal dysplasia, hypotrichosis: Testing

Diagnostic testing: see tests for Spondyloepimetaphyseal dysplasia, hypotrichosis.

Misdiagnosis: see misdiagnosis and Spondyloepimetaphyseal dysplasia, hypotrichosis.

How is it treated?

Doctors and Medical Specialists for Spondyloepimetaphyseal dysplasia, hypotrichosis: Medical Geneticist ; see also doctors and medical specialists for Spondyloepimetaphyseal dysplasia, hypotrichosis.
Treatments for Spondyloepimetaphyseal dysplasia, hypotrichosis: see treatments for Spondyloepimetaphyseal dysplasia, hypotrichosis

Name of Spondyloepimetaphyseal dysplasia, hypotrichosis

Main name of condition: Spondyloepimetaphyseal dysplasia, hypotrichosis

Spondyloepimetaphyseal dysplasia, hypotrichosis: Related Conditions

Research the causes of these diseases that are similar to, or related to, Spondyloepimetaphyseal dysplasia, hypotrichosis:

 

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