Chondrodysplasia Punctata, Rhizomelic

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)

Year introduced: 1996

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Tree Number(s): C05.116.099.708.195.200, C16.320.565.663.265, C18.452.648.663.265

MeSH Unique ID: D018902

Entry Terms:

• Chondrodysplasia Punctatas, Rhizomelic
• Punctata, Rhizomelic Chondrodysplasia
• Punctatas, Rhizomelic Chondrodysplasia
• Rhizomelic Chondrodysplasia Punctatas
• Rhizomelic Chondrodysplasia Punctata
• Chondrodysplasia Punctata, Rhizomelic Form

Previous Indexing:

• Chondrodysplasia Punctata (1971-1995)

All MeSH Categories
Diseases Category
Musculoskeletal Diseases
Bone Diseases
Bone Diseases, Developmental
Osteochondrodysplasias
Chondrodysplasia Punctata
Chondrodysplasia Punctata, Rhizomelic

All MeSH Categories
Diseases Category
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Peroxisomal Disorders
Chondrodysplasia Punctata, Rhizomelic

All MeSH Categories
Diseases Category
Nutritional and Metabolic Diseases
Metabolic Diseases
Metabolism, Inborn Errors
Peroxisomal Disorders
Chondrodysplasia Punctata, Rhizomelic