What is Schofer beetz bohl syndrome?

What is Schofer beetz bohl syndrome?

• Schofer beetz bohl syndrome: A rare syndrome characterized mainly by brain calcification, mental retardation, short stature, diabetes insipidus and unusual facial appearance.

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

Schofer beetz bohl syndrome: Introduction

What are the symptoms of Schofer beetz bohl syndrome?

Symptoms of Schofer beetz bohl syndrome: see symptoms of Schofer beetz bohl syndrome

Schofer beetz bohl syndrome: Testing

Diagnostic testing: see tests for Schofer beetz bohl syndrome.

Misdiagnosis: see misdiagnosis and Schofer beetz bohl syndrome.

How is it treated?

Doctors and Medical Specialists for Schofer beetz bohl syndrome: Pediatrician, Neurologist ; see also doctors and medical specialists for Schofer beetz bohl syndrome.
Treatments for Schofer beetz bohl syndrome: see treatments for Schofer beetz bohl syndrome

Name and Aliases of Schofer beetz bohl syndrome

Main name of condition: Schofer beetz bohl syndrome

Diabetes insipidus, nephrogenic with mental retardation and intracerebral calcification

Diabetes insipidus, nephrogenic with mental retardation and intracerebral calcification
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Search Specialists by State and City