Megalencephaly-severe kyphoscoliosis-overgrowth syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by overgrowth and macrocephaly with megalencephaly apparent at birth global developmental delay intellectual disability and dysmorphic facial features (including frontal bossing long face sparse eyebrows hypertelorism downslanting palpebral fissures and prognathism). Patients may exhibit tall stature with dolichostenomelia arachnodactyly kyphoscoliosis and joint laxity as well as neurologic manifestations such as hypotonia gait ataxia or seizures. Brain imaging may show increased white matter volume thick corpus callosum or small cerebellum.

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 Data version July 2024

Newly diagnosed with
Megalencephaly-severe kyphoscoliosis-overgrowth 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

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

Don't see your organization here. Let us know here.

Clinical Trials

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