Canadian Medical Guide > Diseases > Musculoskeletal Diseases > Bone Diseases > Bone Diseases, Developmental > Osteochondrodysplasias > Chondrodysplasia Punctata Terms and Definitions




Chondrodysplasia Punctata

Medical Definition: A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC), an autosomal dominant form (Conradi-Hunermann syndrome), and a milder X-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form.
Guide Notes: a form of osteochondrodysplasia with stippled epiphyses; spell X ref name HUNERMANN with an umlaut in titles & translations: Hunermann; CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC is also available
Also Called: Hunermann-Conradi Syndrome
Chondrodysplasia Punctata Categories.
Canadian Medical Guide Definition 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 endochondrial 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)

Chondrodysplasia Punctata Medical Definitions and Terms

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