gargoylism

• Nom désignant une maladie métabolique héréditaire, à savoir une affection autosomique récessive liée à un trouble du métabolisme des mucopolysaccharides, entraînant de graves anomalies du développement du cartilage et des os, ainsi qu’un retard mental.

A noun referring to a hereditary metabolic disorder, specifically an autosomal recessive disease involving an error in mucopolysaccharide metabolism, leading to severe abnormalities in skeletal cartilage and bone development as well as mental retardation.

indénombrable

1. Hereditary metabolic disorderC2formalmedical

   A rare autosomal recessive disease caused by an error in mucopolysaccharide metabolism, leading to severe skeletal, cartilage, and bone abnormalities, as well as mental retardation.

   Mucopolysaccharidose de type I (syndrome de Hurler)

   • Gargoylism is characterized by distinctive facial features and skeletal deformities.
   • The diagnosis of gargoylism was confirmed through genetic testing.
   • Treatment for gargoylism focuses on managing symptoms and improving quality of life.

   Synonymeslipochondrodystrophy