Microcephaly-glomerulonephritis-marfanoid habitus syndrome

Microcephaly-glomerulonephritis-marfanoid habitus syndrome (also known as Galloway-Mowat syndrome, or Galloway syndrome) is an extremely rare genetic disorder characterized by the combination of microcephaly (abnormally small head), early-onset nephrotic syndrome due to glomerulonephritis or other renal glomerular pathology, and a marfanoid body habitus (tall, thin build with long limbs and fingers). The condition primarily affects the central nervous system and the kidneys. Neurological features include severe microcephaly, intellectual disability, seizures, and structural brain abnormalities such as gyral malformations. Renal involvement typically manifests as nephrotic syndrome with diffuse mesangial sclerosis or focal segmental glomerulosclerosis, which can progress to end-stage renal disease. Additional features may include facial dysmorphism, hiatal hernia, and skeletal anomalies consistent with a marfanoid appearance. Galloway-Mowat syndrome has been associated with mutations in several genes involved in the KEOPS complex, including WDR73, TP53RK, TPRKB, OSGEP, and LAGE3, among others. Inheritance is autosomal recessive. The condition typically presents in infancy or early childhood, with nephrotic syndrome often appearing in the first years of life. Prognosis is generally poor, with many affected individuals experiencing progressive renal failure and severe neurodevelopmental impairment. Treatment is primarily supportive and symptomatic, including management of nephrotic syndrome, dialysis or renal transplantation for end-stage kidney disease, antiepileptic medications for seizures, and developmental support services. There is currently no cure or disease-specific therapy available.

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