Aldred syndrome
Aldred Syndrome
Aldred Syndrome (pronounced: al-dred sin-drome), also known as Sotos Syndrome 2 or Malan Syndrome, is a rare genetic disorder characterized by overgrowth in childhood, distinctive facial features, and learning disabilities or delayed development of mental and movement abilities.
Etymology
The syndrome is named after Dr. Maureen Aldred, a geneticist who first described the condition in the medical literature in 1992. The term "syndrome" is derived from the Greek word "syndromē", which means "concurrence of symptoms, concourse".
Symptoms
The most common symptoms of Aldred Syndrome include:
- Overgrowth in childhood
- Distinctive facial features
- Learning disabilities
- Delayed development of mental and movement abilities
Causes
Aldred Syndrome is caused by mutations in the NFIX gene. This gene provides instructions for making a protein that plays a critical role in the development of the brain and other parts of the body.
Diagnosis
Diagnosis of Aldred Syndrome is based on clinical features, including physical characteristics and developmental progress. Genetic testing can confirm a diagnosis.
Treatment
There is no cure for Aldred Syndrome. Treatment is symptomatic and supportive, and may include physical therapy, educational services, and treatments for specific symptoms.
Related Terms
See Also
External links
- Medical encyclopedia article on Aldred syndrome
- Wikipedia's article - Aldred syndrome
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