Papillorenal syndrome differential diagnosis: Difference between revisions
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==Differential Diagnosis== | ==Differential Diagnosis== | ||
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[[File:Charge Syndrome.jpg|thumb|'''Charge Syndrome''']] | [[File:Charge Syndrome.jpg|thumb|'''Charge Syndrome''', | ||
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Various differential diagnosis of renal coloboma syndrome are as follows: | Various differential diagnosis of renal coloboma syndrome are as follows: | ||
Revision as of 19:27, 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.