Diseases [C] » Musculoskeletal Diseases [C05] » Bone Diseases » Bone Diseases, Developmental » Osteochondrodysplasias » Chondrodysplasia Punctata » Chondrodysplasia Punctata, Rhizomelic
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Metabolism, Inborn Errors » Peroxisomal Disorders » Chondrodysplasia Punctata, Rhizomelic
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Metabolism, Inborn Errors » Peroxisomal Disorders » Chondrodysplasia Punctata, Rhizomelic
Description
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) MeSH
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