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Chondrodysplasia Punctata

  • Reference work entry
Atlas of Genetic Diagnosis and Counseling

  • 347 Accesses

Chondrodysplasia punctata (CDP) refers to the radiographic appearance of punctate calcifications, due to abnormal cartilaginous stippling, the result of calcium deposition in the areas of enchondral bone formation, described in a variety of chondrodysplasias.

Synonyms and Related Disorders

Chondrodystrophia calcificans punctata; Conradi-Hunermann syndrome; Conradi-Hunermann-Happle syndrome; Happle syndrome; Rhizomelic form of Chondrodysplasia punctata

Genetics/Basic Defects

  1. 1.

    Genetic heterogeneity of chondrodysplasia punctata

    1. a.

      Rhizomelic chondrodysplasia punctata type I (RCDP1)

      1. i.

        Autosomal recessive disorder

      2. ii.

        Caused by mutations in PEX7, mapped at 6q22–q24, which encodes the cytosolic peroxisomal targeting signal type 2 (PTS2)-receptor protein peroxin 7

      3. iii.

        Genotype–phenotype correlations

        1. a)

          Classic RCDP1: all patients homozygous for the L292X mutation

        2. b)

          Phenotype determined by the other allele if the patients are compound heterozygotes for L292X and another mutation

          ...

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Editor information

Editors and Affiliations

  1. Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, 1501 Kings Highway, Shreveport, LA, 71130, USA

    Harold Chen

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(2012). Chondrodysplasia Punctata. In: Chen, H. (eds) Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-1037-9_41

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