Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome

Synonyms: Graham-Cox syndrome

Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve facial dysmorphism (high forehead microretrognathia low-set ears) intellectual deficit agenesis of the corpus callosum (ACC) sensorineural hearing loss skeletal anomalies and short stature.

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

Newly diagnosed with
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

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.