dysostosis multiplex
Học thuậtThân thiện
A child with dysostosis multiplex sits in a wheelchair at a physical therapy session.
Definition
- Noun:
- A hereditary disease (autosomal recessive) caused by an error in mucopolysaccharide metabolism. It is characterized by severe abnormalities in the development of skeletal cartilage and bone, and often involves intellectual disability.
Usage
- Noun:
- The diagnosis of dysostosis multiplex was confirmed through genetic testing.
- Dysostosis multiplex is a hallmark feature of several lysosomal storage disorders.
Advanced Usage
- The term dysostosis multiplex is used clinically and in medical literature to describe the specific pattern of skeletal abnormalities seen in certain genetic conditions, such as mucopolysaccharidosis type I (Hurler syndrome).
Variants and Related Words
- Hurler syndrome (n): A specific type of mucopolysaccharidosis (MPS I) whose features include dysostosis multiplex.
- Gargoylism (n, historical/archaic): An older term sometimes used to describe the physical appearance associated with dysostosis multiplex in conditions like Hurler syndrome.
Synonyms
- Mucopolysaccharidosis (n): The broader category of metabolic disorders to which conditions featuring dysostosis multiplex belong. (Note: This is a category, not a direct synonym for the skeletal findings themselves).
- Lysosomal storage disease (n): The wider class of disorders that includes conditions causing dysostosis multiplex.
A child with dysostosis multiplex sits in a wheelchair at a physical therapy session.
Noun
- 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