Miller

Miller Syndrome is a rare genetic disorder characterized by distinctive facial features, limb abnormalities, and other physical problems. It is also known as postaxial acrofacial dysostosis.

Symptoms

The most common symptoms of Miller Syndrome include:

• Micrognathia (small lower jaw)
• Cleft lip and cleft palate
• Eyelid abnormalities
• Ear abnormalities
• Limb abnormalities, particularly affecting the arms and hands

Causes

Miller Syndrome is caused by mutations in the DHODH gene. This gene provides instructions for making an enzyme that is involved in the production of pyrimidines, which are building blocks of DNA and its chemical cousin, RNA.

Diagnosis

Diagnosis of Miller Syndrome is based on a clinical examination and confirmed by genetic testing.

Treatment

There is no cure for Miller Syndrome. Treatment is supportive and depends on the specific symptoms present in each individual.

Prognosis

The prognosis for individuals with Miller Syndrome varies. Some individuals may have severe respiratory problems and may not survive infancy, while others may have a normal lifespan.

See also

• Genetic disorder
• Rare disease

References

Miller Resources
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