Papillorenal syndrome differential diagnosis

Differential Diagnosis

Charge Syndrome

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.