Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome

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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.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia 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.

Clinical Trials

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