Chapter 17 - Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99)»Congenital malformations and deformations of the musculoskeletal system (Q65-Q79)»Chondrodysplasia punctata (Q77.3)
Q77.3
Chondrodysplasia punctata
Related indications (MeSH) (1)
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.