lipochondrodystrophy

• Maladie héréditaire 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 hereditary autosomal recessive disorder involving a defect in mucopolysaccharide metabolism, leading to severe abnormalities in the development of skeletal cartilage and bone, as well as mental retardation.

indénombrable

1. Lipochondrodystrophyformalmedical

   An autosomal recessive hereditary disorder affecting mucopolysaccharide metabolism, leading to severe skeletal and cartilage deformities, bone abnormalities, and mental retardation.

   Lipochondrodystrophie

   • The child was diagnosed with lipochondrodystrophy shortly after birth due to abnormal skeletal development.
   • Genetic counseling is recommended for families with a history of lipochondrodystrophy.
   • Treatment for lipochondrodystrophy focuses on managing symptoms and supportive care.

   Synonymesgargoylism