lipochondrodystrophy

• مرض وراثي متنحٍ ناتج عن خلل في استقلاب عديدات السكاريد المخاطية يؤدي إلى تشوهات شديدة في نمو الغضاريف والعظام مع تخلف عقلي.

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.

غير معدود

1. Lipochondrodystrophyformalmedical

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

   الحثل الشحمي الغضروفي

   • 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.

   المرادفاتgargoylism