Miller
Miller Syndrome
Miller Syndrome (pronounced: /ˈmɪlər sɪnˈdroʊm/), also known as Genee-Wiedemann Syndrome, is a rare genetic disorder characterized by specific facial abnormalities and limb malformations. The term "Miller" in Miller Syndrome is derived from the name of the scientist, M. Michael Cohen Jr., and his colleague, Dr. Ethylin Jabs, who first described the condition in 1979. They named it after a patient with the surname Miller.
Symptoms
The symptoms of Miller Syndrome include underdeveloped cheekbones (micrognathia), a very small lower jaw (micrognathia), incomplete development of the eyelids (coloboma), and abnormalities of the outer ear (microtia). Limb abnormalities include the absence of certain bones in the arms and hands (ectrodactyly) and occasionally in the feet.
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, one of the building blocks of DNA. The mutations in the DHODH gene reduce the activity of this enzyme, which disrupts the normal development of many parts of the body.
Diagnosis
Diagnosis of Miller Syndrome is based on a clinical evaluation, detailed patient history, and a variety of specialized tests. Genetic testing can confirm a diagnosis.
Treatment
Treatment of Miller Syndrome is symptomatic and supportive. It often involves several medical disciplines, including craniofacial surgery, orthopedics, audiology, and speech therapy.
Prognosis
The prognosis for individuals with Miller Syndrome varies. Some individuals may have mild symptoms and live a normal life span, while others may have severe complications.
External links
- Medical encyclopedia article on Miller
- Wikipedia's article - Miller
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