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What is Velocardiofacial syndrome?

What is Velocardiofacial syndrome?

  • Velocardiofacial syndrome: A genetic disorder which can present with a wide range of phenotypic manifestations which has lead to a number of different names being assigned to the various presentations e.g. DiGeorge Syndrome and Cayler Anomaly Face Syndrome. There are nearly 200 different symptoms that can occur and the severity of the condition is also highly variable depending on the nature and severity of the symptoms that are present.

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

Velocardiofacial syndrome: Introduction

Types of Velocardiofacial syndrome:

Broader types of Velocardiofacial syndrome:

How many people get Velocardiofacial syndrome?

Incidence (annual) of Velocardiofacial syndrome: 1-in-3000 approximately.
Incidence Rate of Velocardiofacial syndrome: approx 1 in 3,000 or 0.03% or 90,666 people in USA [about data]

How serious is Velocardiofacial syndrome?

Complications of Velocardiofacial syndrome: see complications of Velocardiofacial syndrome

What causes Velocardiofacial syndrome?

Causes of Velocardiofacial syndrome: see causes of Velocardiofacial syndrome
Cause of Velocardiofacial syndrome: Chromosomal deletion at 22q11.

What are the symptoms of Velocardiofacial syndrome?

Symptoms of Velocardiofacial syndrome: see symptoms of Velocardiofacial syndrome

Complications of Velocardiofacial syndrome: see complications of Velocardiofacial syndrome

Can anyone else get Velocardiofacial syndrome?

Inheritance of genetic conditions: see details in inheritance of genetic diseases.

Velocardiofacial syndrome: Testing

Diagnostic testing: see tests for Velocardiofacial syndrome.

Misdiagnosis: see misdiagnosis and Velocardiofacial syndrome.

How is it treated?

Doctors and Medical Specialists for Velocardiofacial syndrome: Medical Geneticist ; see also doctors and medical specialists for Velocardiofacial syndrome.
Treatments for Velocardiofacial syndrome: see treatments for Velocardiofacial syndrome
Research for Velocardiofacial syndrome: see research for Velocardiofacial syndrome

Name and Aliases of Velocardiofacial syndrome

Main name of condition: Velocardiofacial syndrome

Class of Condition for Velocardiofacial syndrome: genetic chromosomal

Other names or spellings for Velocardiofacial syndrome:

Shprintzen syndrome, Sedlackova syndrome, Shprintzen VCF syndrome, VCF syndrome, VCFS, CATCH 22, Deletion 22q11.2

Shprintzen velo-cardio-facial syndrome, Velofacial hypoplasia Source - Diseases Database

Shprintzen VCF syndrome, VCF syndrome, VCFS, Shprintzen syndrome, Shprintzen VCF syndrome, VCF syndrome, VCFS
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Velocardiofacial syndrome: Related Conditions

Research the causes of these diseases that are similar to, or related to, Velocardiofacial syndrome:


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