Corpus callosum agenesis-abnormal genitalia syndrome

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Synonyms: ACC-abnormal genitalia syndrome | Microcephaly-corpus callosum agenesis-abnormal genitalia syndrome | Proud syndrome | Proud-Levine-Carpenter syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Corpus callosum agenesis-abnormal genitalia syndrome?

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Advocacy Organizations

National Organization for Disorders of the Corpus Callosum

The NODCC has become the leading organization for disorders of the corpus callosum seeking to raise the profile, understanding and acceptance of these disorders through education, networking, advocacy, and being a catalyst for research.

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Clinical Trials

For a list of clinical trials in this disease area, please click here.