hurler's syndrome (Meaning)
hurler's syndrome (n)
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
Synonyms & Antonyms of hurler's syndrome
No Synonyms and anytonyms found
hurler's syndrome Sentence Examples
- Hurler's syndrome is a rare genetic disorder caused by a deficiency of the enzyme iduronate-2-sulfatase.
- Children with Hurler's syndrome typically have a hoarse voice due to recurrent respiratory infections.
- The characteristic facial features of Hurler's syndrome include a broad face, coarse features, and a thick tongue.
- Joint stiffness and pain are common symptoms of Hurler's syndrome, particularly in the knees and hips.
- Patients with Hurler's syndrome experience intellectual disability of varying degrees.
- Children with Hurler's syndrome often have enlarged livers and spleens due to the accumulation of glycosaminoglycans.
- Corneal clouding is a potential complication of Hurler's syndrome, leading to vision impairment.
- Enzyme replacement therapy is the primary treatment for Hurler's syndrome, but it has limitations in improving neurological function.
- Hematopoietic stem cell transplantation is an investigational treatment option for Hurler's syndrome.
- Genetic testing can confirm the diagnosis of Hurler's syndrome and identify specific gene mutations responsible for the disorder.
FAQs About the word hurler's syndrome
hereditary disease (autosomal recessive) consisting of an error is mucopolysaccharide metabolism; characterized by severe abnormalities in development of skelet
No synonyms found.
No antonyms found.
Hurler's syndrome is a rare genetic disorder caused by a deficiency of the enzyme iduronate-2-sulfatase.
Children with Hurler's syndrome typically have a hoarse voice due to recurrent respiratory infections.
The characteristic facial features of Hurler's syndrome include a broad face, coarse features, and a thick tongue.
Joint stiffness and pain are common symptoms of Hurler's syndrome, particularly in the knees and hips.
