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What is Cephalopolysyndactyly?

What is Cephalopolysyndactyly?

  • Cephalopolysyndactyly: A rare genetic disorder characterized by premature closing of skull bones and craniofacial abnormalities, finger and toe abnormalities. The type and severity of symptoms is variable with many cases remaining undiagnosed because their condition is relatively mild and doesn't cause many problems.

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Cephalopolysyndactyly as a "rare disease".
Source - Orphanet

Cephalopolysyndactyly: Introduction

Types of Cephalopolysyndactyly:

Broader types of Cephalopolysyndactyly:

How serious is Cephalopolysyndactyly?

Prognosis of Cephalopolysyndactyly: The prognosis varies depending on the type and severity of symptoms that develop. Prompt diagnosis and appropriate treatment can improve prognosis and quality of life. Generally a good prognosis and a normal life expectancy can be expected. The main symptom of concern is the mild mental retardation that can occur in some patients.

What causes Cephalopolysyndactyly?

Causes of Cephalopolysyndactyly: see causes of Cephalopolysyndactyly

What are the symptoms of Cephalopolysyndactyly?

Symptoms of Cephalopolysyndactyly: see symptoms of Cephalopolysyndactyly

Cephalopolysyndactyly: Testing

Diagnostic testing: see tests for Cephalopolysyndactyly.

Misdiagnosis: see misdiagnosis and Cephalopolysyndactyly.

How is it treated?

Doctors and Medical Specialists for Cephalopolysyndactyly: Medical Geneticist ; see also doctors and medical specialists for Cephalopolysyndactyly.
Treatments for Cephalopolysyndactyly: see treatments for Cephalopolysyndactyly

Name of Cephalopolysyndactyly

Main name of condition: Cephalopolysyndactyly

 

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