X-linked diffuse leiomyomatosis-Alport syndrome
X-linked diffuse leiomyomatosis-Alport syndrome
Definition
A rare renal disease characterized by the association of X-linked Alport syndrome (glomerular nephropathy, sensorineural deafness and ocular anomalies) and benign proliferation of visceral smooth muscle cells along the gastrointestinal, respiratory, and female genital tracts and clinically manifests with dysphagia, dyspnea, cough, stridor, postprandial vomiting, retrosternal or epigastric pain, recurrent pneumonia, and clitoral hypertrophy in females.
Also known as Xq22.3 microdeletion syndrome — per MONDO