Fountain syndrome

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Fountain syndrome

Fountain syndrome (pronounced: /ˈfaʊntɪn/), also known as Fountain's syndrome, is a rare genetic disorder characterized by mental retardation, bone spurs, facial abnormalities, and deafness. The syndrome was first described by Dr. Robert Fountain Jr. in 1974.

Etymology

The term "Fountain syndrome" is derived from the name of the doctor who first described the condition, Dr. Robert Fountain Jr. The suffix "-syndrome" comes from the Greek word "σύνδρομον" (syndromon), meaning "concurrence of symptoms," or "running together."

Symptoms

Fountain syndrome is characterized by several key symptoms:

  • Mental retardation: This is a significant impairment in cognitive function that affects day-to-day functioning. It is a common symptom in many genetic disorders, including Fountain syndrome.
  • Bone spurs: These are bony projections that develop along the edges of bones. In Fountain syndrome, they often occur in the hands and feet.
  • Facial abnormalities: These can include a broad nose, wide-set eyes, and a small jaw. The specific abnormalities can vary from person to person.
  • Deafness: This is a common symptom of Fountain syndrome. It can range from mild hearing loss to complete deafness.

Related Terms

  • Genetic disorder: A disease caused by abnormalities in an individual's genetic material.
  • Bone spur: A bony growth formed on normal bone.
  • Mental retardation: A condition diagnosed before age 18 that includes below-average general intellectual function, and a lack of the skills necessary for daily living.
  • Deafness: The inability to hear, which can be partial or total.

See Also

External links

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