Corpus callosum agenesis-macrocephaly-hypertelorism syndrome

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Corpus callosum agenesis-macrocephaly-hypertelorism syndrome

Synonyms: 7q36.3 microduplication syndrome | Dup(7)(q36.3)

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by agenesis of the corpus callosum borderline or mild intellectual disability macrocephaly and dysmorphic facial features (broad forehead widely spaced eyes). Chiari type I malformation has also been reported in association.

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: // Data version September 2023.

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Corpus callosum agenesis-macrocephaly-hypertelorism 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.