Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
Synonyms: Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay intellectual disability absent scrotum or labia majora absent or underdeveloped nipples and a tuft of hair extruding from the lactiferous ducts bilateral corneal opacities and dysmorphic craniofacial features (microcephaly short forehead and ear abnormalities among others). Patients also show horizontal nystagmus and ataxic gait. Brain MRI reveals small cerebellar hemispheres and vermis and a small pons.
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 April 2024
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Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism 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.
Moonshots for Unicorns
Curing single-gene disorders
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
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