Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome
Synonyms: Skraban-Deardorff syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay intellectual disability seizures abnormal gait and craniofacial dysmorphism (including coarse features depressed nasal bridge anteverted nares broad nasal tip prominent maxilla and upper lip wide mouth abnormal gingiva and widely spaced teeth). Additional reported manifestations are ocular anomalies cardiac defects gastrointestinal problems and autistic features. Brain imaging may show thin corpus callosum white matter abnormalities or dilated ventricles.
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 April 2024
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Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Skraban-Deardorff Syndrome Foundation
The Skraban-Deardorff Syndrome Foundation has been formed by parents and medical professionals worldwide to foster relationships and organize resources to benefit individuals with Skraban-Deardorff Syndrome.
Skraban-Deardorff Syndrome Foundation (SKDEAS)
The Skraban-Deardorff Syndrome Foundation has been formed by parents and medical professionals worldwide to foster relationships and organize resources to benefit individuals with Skraban-Deardorff Syndrome.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.