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Disease Chondrodysplasia Punctata

Name Chondrodysplasia Punctata
Synonyms Chondrodysplasia Punctata 2, X Linked | Chondrodysplasia Punctata 2, X-Linked | Chondrodysplasia Punctata 2, X Linked Dominant | Chondrodysplasia Punctata 2, X-Linked Dominant | Chondrodystrophia Calcificans Congenita | Conradi Hunermann Happle Syndrome | Conradi-Hunermann-Happle Syndrome | Conradi Hünermann Happle Syndrome | Conradi-Hünermann-Happle Syndrome | Conradi-Hunermann-Happle Syndromes | Conradi-Hünermann-Happle Syndromes | Conradi Hunermann Syndrome | Conradi-Hunermann Syndrome | Conradi Hünermann Syndrome | Conradi-Hünermann Syndrome | Conradi-Hünermann Syndromes | Dysplasia Epiphysialis Punctata | Epiphyses, Stippled | Happle Syndrome | Hunermann Conradi Syndrome | Hunermann-Conradi Syndrome | Stippled Epiphyses | X Linked Chondrodysplasia Punctata 2 | X-Linked Chondrodysplasia Punctata 2 | X Linked Dominant Chondrodysplasia Punctata | X-Linked Dominant Chondrodysplasia Punctata
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.
Categories Musculoskeletal disease
MeSH® ID D002806
External Links

Top ↑ Ancestors

DiseasesMusculoskeletal Diseases Has associated chemicals Has associated genes Has associated exposure references Bone Diseases Has associated chemicals Has associated genes Has associated exposure references Bone Diseases, Developmental Has associated chemicals Has associated genes Osteochondrodysplasias Has associated chemicals Has associated genes Chondrodysplasia Punctata Has associated chemicals Has associated genes

Top ↑ Descendants

Chondrodysplasia Punctata Has associated chemicals Has associated genes
  Astley-Kendall syndrome
  Chondrodysplasia Punctata, Autosomal Dominant
  Chondrodysplasia punctata, brachytelephalangic Has associated chemicals Has associated genes
View node Chondrodysplasia Punctata, Rhizomelic Has associated chemicals Has associated genes
  Chondrodysplasia Punctata Syndrome
  Chondrodysplasia Punctata, Tibia-Metacarpal Type
  Chondrodysplasia Punctata with Coagulation Factor Deficiency
  Pacman dysplasia
  X-Linked Chondrodysplasia Punctata 1