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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
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Peroxisomal Disorders > Chondrodysplasia Punctata, Rhizomelic
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Peroxisomal Disorders > Chondrodysplasia Punctata, Rhizomelic

Preferred term

Chondrodysplasia Punctata, Rhizomelic  

Type

  • Topical Descriptor

Broader concept

Entry terms

  • Chondrodysplasia Punctata, Rhizomelic Form
  • Rhizomelic Chondrodysplasia Punctata

Note

  • a form of osteochondrodysplasia with stippled epiphyses; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES

Scope note

  • 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)

History note

  • 1996

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URI

http://www.yso.fi/onto/mesh/D018902

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