Lipochondrodystrophy (Noun)
Meaning
Hereditary disease (autosomal recessive) consisting of an error is mucopolysaccharide metabolism; characterized by severe abnormalities in development of skeletal cartilage and bone and mental retardation.
Classification
Nouns denoting natural processes.
Examples
- The disease lipochondrodystrophy is also known as spondyloenchondrodysplasia and is extremely rare with only a few reported cases worldwide.
- Mutations in the gene encoding phosphoadenosine phosphosulfate synthetase 2 are associated with lipochondrodystrophy, a genetic disorder affecting skeletal development.
- Lipochondrodystrophy is one of several mucopolysaccharidoses that result from defects in lysosomal enzyme activity and lead to accumulation of glycosaminoglycans in lysosomes.
- A genetic study detected lipochondrodystrophy in a consanguineous family, highlighting the need for early diagnosis and genetic counseling.
- Radiographic examination of the patient revealed classic signs of lipochondrodystrophy, including multiple enchondromas and diffuse abnormalities in bone and skeletal development.