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.

Descriptor ID	D002806
MeSH Number(s)	C05.116.099.708.195
Concept/Terms	Chondrodysplasia Punctata Chondrodysplasia Punctata Stippled Epiphyses Epiphyses, Stippled Chondrodystrophia Calcificans Congenita Dysplasia Epiphysialis Punctata Hunermann-Conradi Syndrome Hunermann-Conradi Syndrome Hunermann Conradi Syndrome Conradi-Hunermann Syndrome Conradi Hunermann Syndrome Conradi Hunermann Happle Syndrome Happle Syndrome X-Linked Dominant Chondrodysplasia Punctata X Linked Dominant Chondrodysplasia Punctata X-Linked Chondrodysplasia Punctata 2 X Linked Chondrodysplasia Punctata 2 Chondrodysplasia Punctata 2, X-Linked Chondrodysplasia Punctata 2, X Linked Conradi-Hünermann Syndrome Conradi Hünermann Syndrome Conradi-Hünermann Syndromes Conradi-Hünermann-Happle Syndrome Conradi Hünermann Happle Syndrome Conradi-Hünermann-Happle Syndromes Chondrodysplasia Punctata 2, X-Linked Dominant Chondrodysplasia Punctata 2, X Linked Dominant Conradi-Hunermann-Happle Syndrome Conradi-Hunermann-Happle Syndromes

Below are MeSH descriptors whose meaning is more general than "Chondrodysplasia Punctata".

Below are MeSH descriptors whose meaning is related to "Chondrodysplasia Punctata".

Below are MeSH descriptors whose meaning is more specific than "Chondrodysplasia Punctata".