gargoylism

• Erbliche Stoffwechselerkrankung (Mukopolysaccharidose), die durch autosomal-rezessiv vererbte Störungen des Mukopolysaccharid-Abbaus zu schweren Skelett- und Knorpelmissbildungen sowie geistiger Behinderung führt.

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.

unzählbar

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.

   Erbliche Stoffwechselerkrankung

   • 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.

   Synonymelipochondrodystrophy