Graham-Boyle-Troxell syndrome
MONDO:0023275
Cystic hamartoma of lung and kidney is a rare developmental malformation reported in 3 patients characterized by the presence of benign hamartomatous cysts in kidney and lung, clinically presenting as abdominal mass. Others associated features include hyperplastic nephromegaly, medullary dysplasia and mesoblastic nephroma. There have been no further descriptions in the literature since 1987.
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Directly mapped studies only · unique clinical trialsCurrent registry observations. Phase counts may overlap. Study start dates are not registry registration dates. Investigational interventions are not approved-treatment recommendations.
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Graham–Boyle–Troxell syndrome
Graham-Boyle-Troxell syndrome, also known as Cystic hamartoma of the lung and kidney, is an extremely rare congenital malformation which is characterized by benign hamartomatous cysts present in the lung and kidney. Symptoms include respiratory insufficiency, recurrent respiratory infections, and hypertension. Additional radiological features include hyperplastic nephromegaly, dysplastic medulla, and mesoblastic nephroma. Only three cases have been described in medical literature. Its inheritance pattern is not known.
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.