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What is Jorgenson-Lenz syndrome?

What is Jorgenson-Lenz syndrome?

  • Jorgenson-Lenz syndrome: A very rare syndrome characterized mainly by joint problems, mental retardation and various eye and other anomalies.

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

Jorgenson-Lenz syndrome: Introduction

Types of Jorgenson-Lenz syndrome:

Broader types of Jorgenson-Lenz syndrome:

What causes Jorgenson-Lenz syndrome?

Causes of Jorgenson-Lenz syndrome: see causes of Jorgenson-Lenz syndrome

What are the symptoms of Jorgenson-Lenz syndrome?

Symptoms of Jorgenson-Lenz syndrome: see symptoms of Jorgenson-Lenz syndrome

Jorgenson-Lenz syndrome: Testing

Diagnostic testing: see tests for Jorgenson-Lenz syndrome.

Misdiagnosis: see misdiagnosis and Jorgenson-Lenz syndrome.

How is it treated?

Doctors and Medical Specialists for Jorgenson-Lenz syndrome: Pediatrician, Internist ; see also doctors and medical specialists for Jorgenson-Lenz syndrome.
Treatments for Jorgenson-Lenz syndrome: see treatments for Jorgenson-Lenz syndrome

Name and Aliases of Jorgenson-Lenz syndrome

Main name of condition: Jorgenson-Lenz syndrome

Other names or spellings for Jorgenson-Lenz syndrome:

blepharophimosis [radioulnar synostosis], Blepharophimosis radioulnar synostosis, Ptosis, prognathism, microcephaly, radio-ulnar synostosis, short stature/dwarfism, Mild short stature, microcephaly, ptosis-blepharophimosis, facial asymmetry, and radioulnar synostosis

Blepharophimosis radioulnar synostosis, Mild short stature, microcephaly, ptosis-blepharophimosis, facial asymmetry, and radioulnar synostosis, Ptosis, prognathism, microcephaly, radio-ulnar synostosis, short stature/dwarfism
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

 

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