Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable developmental delay intellectual disability early-onset seizures and facial dysmorphism (including arched eyebrows long palpebral fissures prominent nasal bridge large ears thin upper lip and high arched palate). Other reported features are microcephaly hypotonia growth retardation congenital heart defects and malformations of the fingers and toes as well as additional neurologic manifestations (such as ataxia or spastic quadriplegia). Brain imaging may show hypoplastic corpus callosum white matter abnormalities or cortical atrophy.

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 July 2024

Newly diagnosed with
Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay 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.