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.

Also Known As:

Stippled Epiphyses; Chondrodysplasia Punctata 2, X-Linked; Chondrodysplasia Punctata 2, X-Linked Dominant; Conradi Hunermann Happle Syndrome; Conradi-Hunermann-Happle Syndrome; Conradi-Hünermann Syndrome; Conradi-Hünermann-Happle Syndrome; Happle Syndrome; Hunermann-Conradi Syndrome; X-Linked Chondrodysplasia Punctata 2; X-Linked Dominant Chondrodysplasia Punctata; Chondrodysplasia Punctata 2, X Linked; Chondrodysplasia Punctata 2, X Linked Dominant; Conradi Hunermann Syndrome; Conradi Hünermann Happle Syndrome; Conradi Hünermann Syndrome; Conradi-Hunermann-Happle Syndromes; Conradi-Hünermann Syndromes; Conradi-Hünermann-Happle Syndromes; Hunermann Conradi Syndrome; X Linked Chondrodysplasia Punctata 2; X Linked Dominant Chondrodysplasia Punctata; Chondrodystrophia Calcificans Congenita; Conradi-Hunermann Syndrome; Dysplasia Epiphysialis Punctata; Epiphyses, Stippled

Musculoskeletal Diseases: 751
- Bone Diseases: 5970
  - Developmental Bone Diseases: 156
    - Osteochondrodysplasias: 604
      - Chondrodysplasia Punctata: 179

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Rosaria Tuzzi Research Topics

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Drug/Important Bio-Agent (IBA)