Corpus callosum agenesis-abnormal genitalia syndrome

Corpus callosum agenesis-abnormal genitalia syndrome, also known as Proud syndrome or agenesis of the corpus callosum with abnormal genitalia, is an extremely rare X-linked genetic disorder characterized by the combination of agenesis (absence) or dysgenesis of the corpus callosum — the major structure connecting the two hemispheres of the brain — and abnormalities of the external genitalia. The condition primarily affects the central nervous system and the reproductive/urogenital system. It has been associated with mutations in the ARX gene (Aristaless-related homeobox gene) located on the X chromosome. Key clinical features include intellectual disability (often severe), seizures, microcephaly, and agenesis or hypoplasia of the corpus callosum. Genital abnormalities in affected males may include micropenis, cryptorchidism (undescended testes), and ambiguous genitalia or hypospadias. Because the condition is X-linked recessive, it predominantly affects males, while carrier females are typically unaffected or may show milder features. Additional neurological findings may include spasticity, hypotonia, and abnormal movements. There is currently no cure for this syndrome. Treatment is supportive and symptomatic, focusing on management of seizures with antiepileptic medications, developmental support through early intervention programs including physical therapy, occupational therapy, and speech therapy, and surgical correction of genital abnormalities when indicated. A multidisciplinary approach involving neurologists, geneticists, endocrinologists, and urologists is recommended for comprehensive care.

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