Papillorenal syndrome differential diagnosis: Difference between revisions
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== Overview == | ==Overview== | ||
== Differential Diagnosis == | ==Differential Diagnosis== | ||
__NOTOC__ | __NOTOC__ | ||
[[File:Charge Syndrome.jpg|thumb|'''Charge Syndrome''']] | |||
Various differential diagnosis of renal coloboma syndrome are as follows: | |||
*CHARGE syndrome | |||
**'''C'''oloboma | |||
**'''H'''eart Abnormalities | |||
**Choanal '''A'''tresia | |||
**Growth and development '''R'''etardation | |||
**'''G'''enital Anomalies | |||
**'''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 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. | *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 colobomas in these patients. However, patients with Renal coloboma syndrome does not have any developmental abnormality, cerebellar abnormalities, and/or hepatic dysfunction. | *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. | ||
* 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 - 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. | ||
==References== | ==References== | ||
Revision as of 19:23, 5 September 2020
Overview
Differential Diagnosis
Various differential diagnosis of renal coloboma syndrome are as follows:
- CHARGE syndrome
- 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.
- 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 colobomas 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 colobomas that are typical for RCS are usually not observed in this disorder.