NeurometPlus

Incidence

Proud syndrome is caused by changes in the ARX gene and is inherited in an X-linked recessive manner. Prevalence: Unknown

Clinical Characteristics

Proud syndrome is a rare neurological condition that is primarily characterized by severe intellectual disability, agenesis of the corpus callosum, seizures, and spasticity. It usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. Proud syndrome is caused by changes in the ARX gene and is inherited in an X-linked recessive manner. 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 (prominent supraorbital ridges, synophris, large eyes) and optic atrophy have been observed. The following signs occur in more than 80% of cases: Agenesis of corpus callosum, severe intellectual disability, microcephaly, seizures, severe global developmental delay, short stature and
spasticity. Signs that occur between 30 to 80% include: Abnormal hair pattern, abnormality of the hip bone, coarse facial features, generalized hirsutism, nystagmus, strabismus, protruding ears and scoliosis. Occasional signs observed in less than 30% include cerebral cortical atrophy, hypospadias, inguinal hernia, renal dysplasia, renal hypoplasia/aplasia and tetraplegia. Some females are affected.

Precipitants

None

Provocation Tests

None.

Diagnostic Procedures

It is a genetic syndrome. Proud syndrome is caused by changes in the ARX gene.