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What is Miller-Dieker syndrome?

What is Miller-Dieker syndrome?

  • Miller-Dieker syndrome: A rare genetic disorder characterized by a smooth brain surface. The condition occurs because of deletion of genetic material from the short arm of chromosome 17 ath a particular location (17p13.3).
  • Miller-Dieker syndrome: A developmental defect of the brain caused by incomplete neuronal migration and characterized by smoothness of the surface of the brain (lissencephaly) occurring in association with absence of the sulci and gyri (agyria) and thickening of the cerebral cortex with four rather than six layers (pachygyria), microcephaly, characteristic facial appearance, retarded growth and mental development, neurological complications, and multiple abnormalities of the brain, kidneys, heart, gastrointestinal tract, and other organs. Lissencephaly, once considered as synonymous with Walker-Warburg syndrome and Norman-Roberts syndrome, is now recognized as a component of several other syndromes. Type I (the classical form) is a component of Miller-Dieker and Norman-Roberts syndromes, also occurring as a separate entity; Type II the Walker-Warburg and muscle-eye-brain syndrome, also occurring in the Neu-Laxova syndrome.
    Source - Diseases Database

Miller-Dieker syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Miller-Dieker syndrome, or a subtype of Miller-Dieker syndrome, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Miller-Dieker syndrome: Introduction

Types of Miller-Dieker syndrome:

Broader types of Miller-Dieker syndrome:

How serious is Miller-Dieker syndrome?

Complications of Miller-Dieker syndrome: see complications of Miller-Dieker syndrome

What causes Miller-Dieker syndrome?

Causes of Miller-Dieker syndrome: see causes of Miller-Dieker syndrome

What are the symptoms of Miller-Dieker syndrome?

Symptoms of Miller-Dieker syndrome: see symptoms of Miller-Dieker syndrome

Complications of Miller-Dieker syndrome: see complications of Miller-Dieker syndrome

Miller-Dieker syndrome: Testing

Diagnostic testing: see tests for Miller-Dieker syndrome.

Misdiagnosis: see misdiagnosis and Miller-Dieker syndrome.

How is it treated?

Doctors and Medical Specialists for Miller-Dieker syndrome: Neurologist, Medical Geneticist, Neonatologist ; see also doctors and medical specialists for Miller-Dieker syndrome.
Treatments for Miller-Dieker syndrome: see treatments for Miller-Dieker syndrome
Research for Miller-Dieker syndrome: see research for Miller-Dieker syndrome

Name and Aliases of Miller-Dieker syndrome

Main name of condition: Miller-Dieker syndrome

Other names or spellings for Miller-Dieker syndrome:

MDS, Miller-Dieker lissencephaly syndrome, MDLS

MDLS, MDS (Miller-Dieker syndrome), Miller-Dieker lissencephaly syndrome
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Miller-Dieker syndrome: Related Conditions

Research the causes of these diseases that are similar to, or related to, Miller-Dieker syndrome:


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