Chondrodysplasia Punctata

Synonyms

Chondrodysplasia Punctata 2, X Linked

Chondrodysplasia Punctata 2, X Linked Dominant

Chondrodysplasia Punctata 2, X-Linked

Chondrodysplasia Punctata 2, X-Linked Dominant

Chondrodystrophia Calcificans Congenita

Conradi Hunermann Happle Syndrome

Conradi Hunermann Syndrome

Conradi-Hunermann Syndrome

Conradi-Hunermann Syndromes

Conradi-Hunermann-Happle Syndrome

Conradi-Hunermann-Happle Syndromes

Dysplasia Epiphysialis Punctata

Epiphyses, Stippled

Happle Syndrome

Hunermann Conradi Syndrome

Hunermann-Conradi Syndrome

Stippled Epiphyses

X Linked Chondrodysplasia Punctata 2

X Linked Dominant Chondrodysplasia Punctata

X-Linked Chondrodysplasia Punctata 2

X-Linked Dominant 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.