Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 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.