RHPD2 is a cystic dysplasia of the kidneys, liver and pancreas. Patients affected by this disorder also suffer from Potter sequence, cardiac anomalies such as truncus arteriosus and unseptated atrium and ventricle, pulmonary defects such as hypoplastic lungs and abnormal lung lobulation, and skeletal deformities such as shortened legs, bowed femurs and talipes equinovarus. RHPD has an onset in-utero and most pregnancies are complicated by oligohydramnios. The prognosis for this disorder is poor with most cases resulting in fetal death. While the prevalence of RHPD is not yet clear, it does not appear to have a gender or ethnic bias.
Diagnosis is made based on clinical features and can be confirmed by genetic analysis. There is currently no cure for the disorder. However, patients’ families may benefit from genetic counselling.