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Concept information

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Peroxisomal Disorders > Chondrodysplasia Punctata, Rhizomelic
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Peroxisomal Disorders > Chondrodysplasia Punctata, Rhizomelic
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Osteochondrodysplasias > Chondrodysplasia Punctata > Chondrodysplasia Punctata, Rhizomelic
... > Musculoskeletal Diseases > Bone Diseases > Bone Diseases, Developmental > Osteochondrodysplasias > Chondrodysplasia Punctata > Chondrodysplasia Punctata, Rhizomelic

Terme préférentiel

Chondrodysplasia Punctata, Rhizomelic  

Type

  • mesh:Descriptor

Définition

  • An autosomal recessive form of CHONDRODYSPLASIA PUNCTATA characterized by defective plasmalogen biosynthesis and impaired peroxisomes. Patients have shortened proximal limbs and severely disturbed endochondral bone formation. The metabolic defects associated with the impaired peroxisomes are present only in the rhizomelic form of chondrodysplasia punctata. (From Scriver et al, Metabolic Basis of Inherited Disease, 6th ed, p1497)

Concept générique

Synonyme(s)

  • Chondrodysplasia Punctata, Rhizomelic Form
  • Rhizomelic Chondrodysplasia Punctata

Qualificatif(s) autorisé(s)

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-SST3MBRR-Z

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RDF/XML TURTLE JSON-LD Date de création 27/12/1994, dernière modification le 08/06/2015