Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
A rare genetic neurological disorder characterized by congenital microcephaly severe intellectual disability hypertonia at birth lessening with age ataxia and specific dysmorphic facial features including hirsutism low anterior hairline and bitemporal narrowing arched thick and medially sparse eyebrows long eyelashes lateral upper eyelids swelling and a skin fold partially covering the inferior eyelids low-set posteriorly rotated protruding ears anteverted nares and a full lower lip. Brain imaging shows partial to almost complete agenesis of the corpus callosum and variable degrees of cerebellar hypoplasia.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome?
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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.
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
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.