Papillorenal syndrome: Difference between revisions

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Revision as of 14:00, 27 September 2012

For patient information click here

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Synonyms and keywords:: Renal-coloboma syndrome; isolated renal hypoplasia

@@ Line 19: / Line 19: @@
 {{CMG}}
+{{SK}}: Renal-coloboma syndrome; isolated renal hypoplasia
 ==[[Papillorenal syndrome overview|Overview]]==
 ==[[Papillorenal syndrome historical perspective|Historical Perspective]]==
-==[[Papillorenal syndrome classification|Classification]]==
 ==[[Papillorenal syndrome pathophysiology|Pathophysiology]]==
-==[[Papillorenal syndrome causes|Causes]]==
 ==[[Papillorenal syndrome differential diagnosis|Differentiating Papillorenal syndrome from other Diseases]]==
@@ Line 50: / Line 48: @@
 ==Case Studies==
 [[Papillorenal syndrome case study one|Case #1]]
-'''Papillorenal syndrome''', also called '''Renal-coloboma syndrome''', is an [[autosomal]] [[dominant]] [[genetic disorder]] marked by underdevelopment (hypoplasia) of the [[kidney]] and [[coloboma]]s of the [[optic nerve]].<ref name=omim>{{OMIM|120330}}</ref>
-==Pathophysiology==
-[[Image:autodominant.jpg|thumb|left|{{PAGENAME}} has an autosomal dominant pattern of [[inheritance]].]]
-The syndrome results from mutation of a copy of the [[Pax genes|PAX2 gene]],<ref name=omim/> a gene which is important in the development of both the eye and the kidney.
 ==References==

v t e Congenital malformations and deformations of sex organs (Q50-Q56 · 752)
Female	Template:Navbox subgroup
Male	Template:Navbox subgroup
SDS/DSD	Pseudohermaphroditism · True hermaphroditism · Mixed gonadal dysgenesis · Swyer syndrome · Persistent Mullerian duct syndrome
See also noncongenital, neoplasia