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What is Ruzicka-Goerz-Anton syndrome?

What is Ruzicka-Goerz-Anton syndrome?

  • Ruzicka-Goerz-Anton syndrome: A rare genetic syndrome characterized by rough scaly skin, deafness, mental retardation and skeletal anomalies.

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

Ruzicka-Goerz-Anton syndrome: Introduction

Types of Ruzicka-Goerz-Anton syndrome:

Broader types of Ruzicka-Goerz-Anton syndrome:

What causes Ruzicka-Goerz-Anton syndrome?

Causes of Ruzicka-Goerz-Anton syndrome: see causes of Ruzicka-Goerz-Anton syndrome

What are the symptoms of Ruzicka-Goerz-Anton syndrome?

Symptoms of Ruzicka-Goerz-Anton syndrome: see symptoms of Ruzicka-Goerz-Anton syndrome

Ruzicka-Goerz-Anton syndrome: Testing

Diagnostic testing: see tests for Ruzicka-Goerz-Anton syndrome.

Misdiagnosis: see misdiagnosis and Ruzicka-Goerz-Anton syndrome.

How is it treated?

Doctors and Medical Specialists for Ruzicka-Goerz-Anton syndrome: Medical Geneticist ; see also doctors and medical specialists for Ruzicka-Goerz-Anton syndrome.
Treatments for Ruzicka-Goerz-Anton syndrome: see treatments for Ruzicka-Goerz-Anton syndrome

Name and Aliases of Ruzicka-Goerz-Anton syndrome

Main name of condition: Ruzicka-Goerz-Anton syndrome

Other names or spellings for Ruzicka-Goerz-Anton syndrome:

Ichthyosis deafness mental retardation skeletal anomalies, Ichthyosis congenita, neurosensory deafness, oligophrenia, dental aplasia, brachydactyly, clinodactyly, accessory cervical ribs and thyroid carcinoma

Ichthyosis congenita, neurosensory deafness, oligophrenia, dental aplasia, brachydactyly, clinodactyly, accessory cervical ribs and thyroid carcinoma, Ichthyosis deafness mental retardation skeletal anomalies
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

 

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