Corpus callosum agenesis-abnormal genitalia syndrome
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 November 2023
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Corpus callosum agenesis-abnormal genitalia syndrome?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Genetic Epilepsy Team Australia
Collaboration of research and care
Mickie?s Miracles
To help families get into Level IV Pediatric Epilepsy Centers for diagnosis and treatment urgently -- and provide support to families for every season of the pediatric epilepsy journey.
Moonshots for Unicorns
Curing single-gene disorders
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.
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.