How Do You Spell MORQUIO SYNDROME?

Pronunciation: [mˈɔːkwɪˌə͡ʊ sˈɪndɹə͡ʊm] (IPA)

The proper spelling of the genetic disorder known as Morquio Syndrome can be confusing due to its unusual pronunciation. The word is pronounced as [mɔrˈki.oʊ sɪn'droʊm] and is spelled with a "qu" rather than a "kw" sound. This is because the word is named after Luis Morquio, a Uruguayan physician who first described the condition in 1929. Morquio Syndrome is a rare inherited disease that affects bone growth and development, causing various physical impairments in affected individuals.

MORQUIO SYNDROME Meaning and Definition

  1. Morquio syndrome, also known as Mucopolysaccharidosis type IV (MPS IV), is a rare inherited metabolic disorder that belongs to a group of diseases called lysosomal storage disorders. It is characterized by the deficiency or malfunctioning of enzymes responsible for breaking down sugar molecules called glycosaminoglycans (GAGs). Specifically, Morquio syndrome affects the enzymes N-acetyl-galactosamine-6-sulfatase (MPS IV A) or beta-galactosidase (MPS IV B), resulting in the accumulation of undegraded GAGs in the body's cells and tissues.

    This progressive condition primarily affects skeletal development and frequently leads to various skeletal abnormalities such as short stature, unequal bone growth, spinal deformities, and hip dysplasia. Other common symptoms include thickened skin, facial abnormalities, joint stiffness, limited mobility, dental problems, hearing loss, respiratory complications, and potential damage to various organs. The severity and combination of symptoms can vary widely among affected individuals.

    Morquio syndrome is an autosomal recessive genetic disorder, meaning that an individual must inherit two defective genes - one from each parent - to develop the condition. The disease is typically diagnosed based on clinical signs, symptoms, physical examination, and specialized laboratory tests.

    Although Morquio syndrome presently has no cure, management focuses on alleviating symptoms, promoting mobility, and addressing the individual's specific needs. Treatment options may include surgical interventions to correct skeletal abnormalities, physical therapy, respiratory support, hearing aids, dental care, pain management, and medical monitoring to prevent complications. Due to the progressive nature of the disorder, early diagnosis and comprehensive, multidisciplinary care are crucial in providing the best possible quality of life for individuals affected by

Common Misspellings for MORQUIO SYNDROME

  • norquio syndrome
  • korquio syndrome
  • jorquio syndrome
  • mirquio syndrome
  • mkrquio syndrome
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  • m9rquio syndrome
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  • mofquio syndrome
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  • mo5quio syndrome
  • mo4quio syndrome
  • mor1uio syndrome
  • mor2uio syndrome
  • morwuio syndrome
  • morauio syndrome
  • morqyio syndrome

Etymology of MORQUIO SYNDROME

The term "Morquio Syndrome" is named after the physician who first identified and described the condition, called Morquio, in 1929. Dr. Luis Morquio, an Uruguayan pediatrician, observed and documented the unique clinical features of this rare genetic disorder in a series of case reports. As a result, the condition became known as Morquio Syndrome in his honor.