Chondrodysplasia Punctata

Overview

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Is a:

Disease or Syndrome

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.

Synonyms:

Chondrodystrophia Calcificans Congenita
Conradi Hunermann Syndrome
Conradi-Hunermann Syndrome
Dysplasia Epiphysialis Punctata
Epiphyses, Stippled
Hunermann Conradi Syndrome
Hunermann-Conradi Syndrome
Stippled Epiphyses
Syndrome, Conradi-Hunermann
Syndrome, Hunermann-Conradi

Broader Topics:

Osteochondrodysplasias

Narrower Topics:

Chondrodysplasia Punctata, Rhizomelic

Possibly Related Topics:

List of topics based on word similarity