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Definition

An X-linked syndrome with variable expression in females. It is characterized by agenesis of corpus callosum, mental retardation and seizures. Manifestations in surviving males include severe acquired micrencephaly, mental retardation, limb contractures, scoliosis, tapered fingers with hyperconvex nails, a characteristic face with large eyes, prominent supraorbital ridges, synophrys, optic atrophy, broad alveolar ridges, and seizures. Urologic anomalies include renal dysplasia, cryptorchidism, and hypospadias.

Acronym

ACCAG

Synonyms

ACC with abnormal genitalia
Corpus callosum, agenesis of, with abnormal genitalia
Micrencephaly-corpus callosum agenesis-abnormal genitalia
Proud-Levine-Carpenter syndrome
Proud syndrome

 
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