Search Login Register
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
Efficacy Chart >>
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
Show All >>
Diseases Related to Chondrodysplasia Punctata
-
Smith-Lemli-Opitz Syndrome
-
Refsum Disease (Refsum's Disease)
-
Thanatophoric Dysplasia (Dwarfism, Thanatophoric)
-
Ellis-Van Creveld Syndrome (Chondroectodermal Dysplasia)
-
Ehlers-Danlos Syndrome (Syndrome, Ehlers-Danlos)
Show All >>
Key Therapies for Chondrodysplasia Punctata
Efficacy Chart >>
-
Tissue Expansion
:
1 result
-
X-Ray Film
:
1 result
CureHunter Inc. provides medical information and specifically does NOT provide medical advice.
© Copyright 2003-2016 CureHunter Inc., MeSH copyright NLM, Journal Articles copyright original owners.