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Chondrodysplasia Punctata (Stippled Epiphyses) Summary

Description: 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.

Also Known As: Stippled Epiphyses; Conradi Hunermann Happle Syndrome; Happle Syndrome; Hunermann-Conradi Syndrome; Conradi Hunermann Syndrome Show All >>

Networked: 161 relevant articles (0 outcomes, 3 trials/studies) for this Disease

Key Drugs and Agents for Chondrodysplasia Punctata

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Drugs and Important Biological Agents (IBA) related to treatments:

Cholesterol : 1 study in 18 results : IBA
Phytanic Acid : 1 study in 3 results : IBA
cholesta-5,8-dien-3 beta-ol : 1 study in 3 results : IBA
Proteoglycans (Proteoglycan) : 1 study in 2 results : IBA
Dyssegmental dysplasia : 1 study in 2 results : IBA
7-dehydrocholesterol : 1 study in 2 results : IBA
Detergents (Detergent) : 1 study in 1 result : IBA
Desbuquois syndrome : 1 study in 1 result : IBA
Dyggve-Melchior-Clausen syndrome : 1 study in 1 result : IBA
Cytidine Diphosphate (CDP) : 31 results : IBA

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Diseases Related to Chondrodysplasia Punctata

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Key Therapies for Chondrodysplasia Punctata

Efficacy Chart >>

Tissue Expansion : 1 result
X-Ray Film : 1 result