Ackerman syndrome
Ackerman Syndrome
Ackerman Syndrome (pronunciation: ack-er-man sin-drome) is a rare genetic disorder characterized by severe facial abnormalities, cleft palate, and other physical deformities.
Etymology
The term "Ackerman Syndrome" is named after the American pathologist Lauren Ackerman who first described the condition in 1948.
Definition
Ackerman Syndrome is a genetic disorder that primarily affects the development of the face, palate, and other physical structures. It is characterized by severe facial abnormalities, cleft palate, and other physical deformities. The syndrome is extremely rare, with only a few reported cases worldwide.
Symptoms
The most common symptoms of Ackerman Syndrome include:
- Severe facial abnormalities
- Cleft palate
- Other physical deformities
Causes
Ackerman Syndrome is caused by mutations in the DNA. The exact gene responsible for the syndrome is currently unknown. It is believed to be inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations.
Diagnosis
Diagnosis of Ackerman Syndrome is based on the presence of characteristic symptoms and physical findings. Genetic testing may be used to confirm the diagnosis.
Treatment
There is currently no cure for Ackerman Syndrome. Treatment is symptomatic and supportive, and may include surgery to correct physical deformities.
Prognosis
The prognosis for individuals with Ackerman Syndrome varies. The severity of the condition and the presence of other health problems can affect life expectancy.
See Also
References
- Ackerman, L. V. (1948). Syndrome characterized by severe facial abnormalities, cleft palate, and other physical deformities. American Journal of Pathology, 24(3), 507-519.
External links
- Medical encyclopedia article on Ackerman syndrome
- Wikipedia's article - Ackerman syndrome
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