lipochondrodystrophy

• Наследственное аутосомно-рецессивное заболевание, связанное с нарушением метаболизма мукополисахаридов, приводящее к тяжелым аномалиям развития скелетного хряща и костей, а также к умственной отсталости.

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.

неисчисляемое

1. Lipochondrodystrophyformalmedical

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

   Липохондродистрофия

   • 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.

   Синонимыgargoylism