gargoylism

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Thân thiện
gargoylism

A child with gargoylism receives supportive care from a doctor.

Definition

Noun: 1. A rare, inherited metabolic disorder: Gargoylism is a hereditary disease (specifically autosomal recessive) caused by an error in mucopolysaccharide metabolism. This error leads to the abnormal accumulation of complex sugar molecules (mucopolysaccharides) in cells throughout the body. 2. Characterized by distinct physical and developmental abnormalities: The condition is primarily characterized by severe abnormalities in the development of skeletal cartilage and bone, often resulting in distinctive facial features and short stature, accompanied by intellectual disability.

Usage Examples
  • Noun:
    • The doctor specialized in treating rare genetic conditions like gargoylism.
    • Early diagnosis of gargoylism can help in managing some of the symptoms.
    • The skeletal abnormalities associated with gargoylism are often visible in X-rays.
Advanced Usage
  • Medical/Clinical Context: The term is primarily used in medical, genetic, and clinical contexts to describe the specific syndrome. It is an older clinical term.
    • The study focused on the genetic markers linked to gargoylism.
Variants and Related Words
  • Hurler syndrome: This is a more specific and modern medical term for the most severe form of this disorder, MPS I-H.
  • Mucopolysaccharidosis Type I (MPS I): The broader, current medical classification for the metabolic error that includes a spectrum of disorders, with gargoylism (Hurler syndrome) being the most severe phenotype.
  • Dysostosis multiplex: The term used to describe the specific pattern of skeletal abnormalities seen in this and related disorders.
Synonyms
  • Hurler syndrome (specific subtype)
  • MPS I-H (abbreviation for Mucopolysaccharidosis Type I, Hurler phenotype)
Notes on Usage
  • Terminology Note: "Gargoylism" is an older term derived from the resemblance of some facial features in affected individuals to gargoyles. In modern medical practice, more precise and less pejorative terms like Mucopolysaccharidosis I (MPS I) or Hurler syndrome are preferred. The use of "gargoylism" may be considered outdated or insensitive in some contexts.
gargoylism

A child with gargoylism receives supportive care from a doctor.

Noun
  1. hereditary disease (autosomal recessive) consisting of an error is mucopolysaccharide metabolism; characterized by severe abnormalities in development of skeletal cartilage and bone and mental retardation

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