Congenital Abnormality
chondrodysplasia punctata
Subclass of:
Osteochondrodysplasias
Definitions related to chondrodysplasia punctata:
  • 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.
    NLM Medical Subject Headings
    U.S. National Library of Medicine, 2021
  • A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis.
    NCI Thesaurus
    U.S. National Cancer Institute, 2021
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