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 February 2026
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Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome?
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Advocacy Organizations
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.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.