Macrocephaly-intellectual disability-autism syndrome

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A rare genetic neurological disease characterized by association of macrocephaly dysmorphic facial features and psychomotor delay leading to intellectual disability and autism spectrum disorder. Facial dysmorphism may include frontal bossing hypertelorism midface hypoplasia depressed nasal bridge short nose and long philtrum.

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 June 2024

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Macrocephaly-intellectual disability-autism syndrome?

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Advocacy Organizations

Helping Swans Co.

Promoting disability awareness and inclusion through education and support services. They highlight rare and undiagnosed diseases and provide initiatives in schools, hospitals, and other organizations to create a more inclusive world. The organization was founded by a disabled Latina mother of a rare child with autism, with a focus on diversity and underrepresented communities.

SCN2A Foundation

The SCN2A Foundation is a global initiative dedicated towards accelerating research and treatment for SCN2A. We plan to achieve this by building collaborative networks among the global research community, organizing resources, and strategically investing in highly focused research directed towards therapeutic development.

TRND Network

The TRND Network is dedicated to supporting patients and their loved ones by providing advocacy and support, advancing research, and creating collaboration between researchers and patients.

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Clinical Trials

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