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What is Pallister-Killian Syndrome?

What is Pallister-Killian Syndrome?

  • Pallister-Killian Syndrome: A rare genetic disorder due to tetrasomy of the 12th chromosome.
  • Pallister-Killian Syndrome: Tetrasomy of the short arm of chromosome 12 associated with craniofacial abnormalities with coarse facies, growth and mental deficiency, slow growing hair, and other abnormalities. The adult phenotype is marked mainly by epilepsy, macroglossia, coarse facies, and severe mental retardation.
    Source - Diseases Database

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

Pallister-Killian Syndrome: Introduction

Types of Pallister-Killian Syndrome:

Broader types of Pallister-Killian Syndrome:

How serious is Pallister-Killian Syndrome?

Complications of Pallister-Killian Syndrome: see complications of Pallister-Killian Syndrome

What causes Pallister-Killian Syndrome?

Causes of Pallister-Killian Syndrome: see causes of Pallister-Killian Syndrome

What are the symptoms of Pallister-Killian Syndrome?

Symptoms of Pallister-Killian Syndrome: see symptoms of Pallister-Killian Syndrome

Complications of Pallister-Killian Syndrome: see complications of Pallister-Killian Syndrome

Pallister-Killian Syndrome: Testing

Diagnostic testing: see tests for Pallister-Killian Syndrome.

Misdiagnosis: see misdiagnosis and Pallister-Killian Syndrome.

How is it treated?

Doctors and Medical Specialists for Pallister-Killian Syndrome: Medical Geneticist ; see also doctors and medical specialists for Pallister-Killian Syndrome.
Treatments for Pallister-Killian Syndrome: see treatments for Pallister-Killian Syndrome
Research for Pallister-Killian Syndrome: see research for Pallister-Killian Syndrome

Name and Aliases of Pallister-Killian Syndrome

Main name of condition: Pallister-Killian Syndrome

Other names or spellings for Pallister-Killian Syndrome:

PKS, Tetrasomy 12p, mosaic, Isochromosome 12p syndrome

Teschler-Nicola and Killian syndrome, Tetrasomy 12p, Chromosome 12p tetrasomy syndrome, Pallister mosaic aneuploidy Source - Diseases Database

Isochromosome 12p syndrome, PKS, Tetrasomy 12p, mosaic
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Pallister-Killian Syndrome: Related Conditions

Research the causes of these diseases that are similar to, or related to, Pallister-Killian Syndrome:


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