lipochondrodystrophy

• Enfermedad hereditaria autosómica recesiva debida a un trastorno del metabolismo de los mucopolisacáridos, que provoca graves anomalías en el desarrollo del cartílago y los huesos, así como discapacidad intelectual.

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.

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1. Lipochondrodystrophyformalmedical

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

   Lipocondrodistrofia

   • 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.

   Sinónimosgargoylism