/corpus callosum agenesis-abnormal genitalia syndrome

corpus callosum agenesis-abnormal genitalia syndrome

Rare Disease

MONDO:0010224

Also Known As

ACC-abnormal genitalia syndromeProud syndromeProud-Levine-Carpenter syndromemicrocephaly-corpus callosum agenesis-abnormal genitalia syndromeACC with abnormal genitaliaNew X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosumProud Levine Carpenter syndromecorpus callosum, agenesis of, with abnormal genitalia

Definition

Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (large eyes, prominent supraorbital ridges, synophris) and optic atrophy have been observed.