Microcephaly-thin corpus callosum-intellectual disability syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

Microcephaly-thin corpus callosum-intellectual disability syndrome

A rare genetic syndromic intellectual disability disease characterized by progressive postnatal microcephaly and global developmental delay as well as moderate to profound intellectual disability difficulty or inability to walk pyramidal signs (including spasticity hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus strabismus and abnormal retinal pigmentation) foot deformity and genital anomalies may also be associated.

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
Microcephaly-thin corpus callosum-intellectual disability 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

Clinical Trials

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