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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
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Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome?
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