Papillorenal syndrome differential diagnosis: Difference between revisions

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{{CMG}} {{AE}} {{Shivam Singla}}
==Overview==
==Overview==
 
The [[Renal-coloboma syndrome|renal coloboma syndrome]] differentials include most of the disease with [[renal]] and [[ocular anomalies]]. The numerous important differentials are [[CHARGE Syndrome]] that includes characteristic five features of the disease including [[Coloboma|'''C'''oloboma]], '''H'''eart Abnormalities, [[Choanal atresia|Choanal '''A'''tresia]], Growth and development '''R'''etardation, '''G'''enital Anomalies, [[Ear|'''E'''ar]] and [[hearing]] abnormalities. A lot of [[patients]] studied under [[renal coloboma]] syndrome do not have any sort of [[craniofacial]] anomalies that are typical of [[CHARGE Syndrome]]. Other differentials include [[Branchio-oto-renal syndrome]] - [[Renal]] [[hypoplasia]] in these patients makes this an important differential. Pt with [[PAX6]] [[Mutations]] - significant overlap with [[eye]] findings in [[patients]] with [[PAX6]] [[gene]] mutation make it an important differential but the [[renal]] anomalies that are typical for [[RCS]] are absent in these patients. [[COACH syndrome|COACH Syndrome]] or [[Joubert]] - Important differential due to the presence of both [[renal]] abnormalities and [[coloboma]] in these patients. However, patients with [[Renal-coloboma syndrome|Renal coloboma syndrome]] does not have any developmental abnormality, [[cerebellar]] abnormalities, and/or [[hepatic]] dysfunction. [[Cat eye syndrome|Cat Eye Syndrome]] - This genetic abnormality is having symptomatic overlap with [[renal coloboma]] [[syndrome]] but the [[Iris coloboma]] that is typical for RCS is usually not observed in this disorder.
 
 


==Differential Diagnosis==
==Differential Diagnosis==
__NOTOC__
__NOTOC__
[[File:Charge Syndrome.jpg|thumb|'''Charge Syndrome''',   
[[File:Charge Syndrome.jpg|thumb|'''Charge Syndrome''',   
https://www.pinterest.com/pin/745979125752518021/]]
https://www.pinterest.com/pin/745979125752518021/|351x351px]]
Various differential diagnosis of renal coloboma syndrome are as follows:  
Various differential diagnosis of [[Renal-coloboma syndrome|renal coloboma syndrome]] are as follows<ref name="urlwww.orpha.net">{{cite web |url=https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1475 |title=www.orpha.net |format= |work= |accessdate=}}</ref><ref name="urlPapillorenal syndrome - Wikipedia">{{cite web |url=https://en.wikipedia.org/wiki/Papillorenal_syndrome |title=Papillorenal syndrome - Wikipedia |format= |work= |accessdate=}}</ref>:  


*CHARGE syndrome
*CHARGE syndrome<ref name="pmid20301296">{{cite journal |vauthors=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Lalani SR, Hefner MA, Belmont JW, Davenport SLH |title= |journal= |volume= |issue= |pages= |date= |pmid=20301296 |doi= |url=}}</ref>
**'''C'''oloboma
**[[Coloboma|'''C'''oloboma]]
**'''H'''eart Abnormalities
**'''H'''eart Abnormalities
**Choanal '''A'''tresia
**[[Choanal atresia|Choanal '''A'''tresia]]
**Growth and development '''R'''etardation
**Growth and development '''R'''etardation
**'''G'''enital Anomalies
**[[Genital|'''G'''enital Anomalies]]
**'''E'''ar and hearing abnormalities
**'''E'''ar and hearing abnormalities


A lot of patients studied under renal coloboma syndrome do not have any sort of craniofacial anomalies that are typical of CHARGE Syndrome.
A lot of patients studied under [[Renal-coloboma syndrome|renal coloboma syndrome]] do not have any sort of craniofacial anomalies that are typical of CHARGE Syndrome.


*Branchio-oto-renal syndrome- Renal hypoplasia in these patients makes this an important differential.
*[[Branchio-oto-renal syndrome]]- Renal hypoplasia in these patients makes this an important differential.


*Pt with PAX6 Mutations - significant overlap with eye findings in patients with PAX6 gene mutation make it an important differential but the renal anomalies that are typical for RCS are absent in these patients.
*[[PAX6]] Mutations - significant overlap with eye findings in patients with [[PAX6]] gene mutation make it an important differential
**The renal anomalies that are typical for RCS are not present in these patients.


*COACH Syndrome or Joubert - Important differential due to the presence of both renal abnormalities and colobomas in these patients. However, patients with Renal coloboma syndrome does not have any developmental abnormality, cerebellar abnormalities, and/or hepatic dysfunction.
*[[COACH syndrome|COACH Syndrome]] or [[Joubert syndrome|Jouber]]<nowiki/>t<ref name="urlRenal coloboma syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program">{{cite web |url=https://rarediseases.info.nih.gov/diseases/4106/renal-coloboma-syndrome |title=Renal coloboma syndrome &#124; Genetic and Rare Diseases Information Center (GARD) – an NCATS Program |format= |work= |accessdate=}}</ref> <ref name="pmid20301500">{{cite journal |vauthors=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Parisi M, Glass I |title= |journal= |volume= |issue= |pages= |date= |pmid=20301500 |doi= |url=}}</ref>- Important differential due to the presence of both renal abnormalities and coloboma in these patients.  
**However, patients with [[Renal-coloboma syndrome|Renal coloboma syndrome]] does not have any characteristic features of Joubert syndrome that is:
***Developmental abnormality
***Cerebellar abnormalities [[File:Cat Eye Syndrome.jpg|thumb|416x416px|'''Cat Eye Syndrome- Differential for Renal coloboma syndrome''',   https://www.pinterest.com/pin/789326272162992595/]]
***[[Hepatic]] dysfunction
**Important symptoms of this syndrome include:
***Abnormally large head and forehead
***[[Renal Cysts|Renal Cyst]]
***Jerky Eye movements
***Developmental delays
***Hypotonia with unsteadiness


*Cat Eye Syndrome - This genetic abnormality is having symptomatic overlap with renal coloboma syndrome but the Iris colobomas that are typical for RCS are usually not observed in this disorder.
*[[Cat-eye syndrome|Cat Eye Syndrome]] - This genetic abnormality is having symptoms overlapping with [[Renal-coloboma syndrome|renal coloboma syndrome]]
**The Iris colobomas that are typical for RCS are usually not observed in this disorder.


==References==
==References==

Latest revision as of 14:41, 10 September 2020

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Shivam Singla, M.D.[2]

Overview

The renal coloboma syndrome differentials include most of the disease with renal and ocular anomalies. The numerous important differentials are CHARGE Syndrome that includes characteristic five features of the disease including Coloboma, Heart Abnormalities, Choanal Atresia, Growth and development Retardation, Genital Anomalies, Ear and hearing abnormalities. A lot of patients studied under renal coloboma syndrome do not have any sort of craniofacial anomalies that are typical of CHARGE Syndrome. Other differentials include Branchio-oto-renal syndrome - Renal hypoplasia in these patients makes this an important differential. Pt with PAX6 Mutations - significant overlap with eye findings in patients with PAX6 gene mutation make it an important differential but the renal anomalies that are typical for RCS are absent in these patients. COACH Syndrome or Joubert - Important differential due to the presence of both renal abnormalities and coloboma in these patients. However, patients with Renal coloboma syndrome does not have any developmental abnormality, cerebellar abnormalities, and/or hepatic dysfunction. Cat Eye Syndrome - This genetic abnormality is having symptomatic overlap with renal coloboma syndrome but the Iris coloboma that is typical for RCS is usually not observed in this disorder.

Differential Diagnosis

Charge Syndrome, https://www.pinterest.com/pin/745979125752518021/

Various differential diagnosis of renal coloboma syndrome are as follows[1][2]:

A lot of patients studied under renal coloboma syndrome do not have any sort of craniofacial anomalies that are typical of CHARGE Syndrome.

  • PAX6 Mutations - significant overlap with eye findings in patients with PAX6 gene mutation make it an important differential
    • The renal anomalies that are typical for RCS are not present in these patients.
  • COACH Syndrome or Joubert[4] [5]- Important differential due to the presence of both renal abnormalities and coloboma in these patients.
    • However, patients with Renal coloboma syndrome does not have any characteristic features of Joubert syndrome that is:
    • Important symptoms of this syndrome include:
      • Abnormally large head and forehead
      • Renal Cyst
      • Jerky Eye movements
      • Developmental delays
      • Hypotonia with unsteadiness

References

  1. ↑ "www.orpha.net".
  2. ↑ "Papillorenal syndrome - Wikipedia".
  3. ↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Lalani SR, Hefner MA, Belmont JW, Davenport S. PMID 20301296. Vancouver style error: initials (help); Missing or empty |title= (help)
  4. ↑ "Renal coloboma syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program".
  5. ↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Parisi M, Glass I. PMID 20301500. Vancouver style error: initials (help); Missing or empty |title= (help)

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