Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome

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Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome

A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe intellectual deficit Dandy-Walker malformation macrocephaly severe myopia brachytelephalangy with short and broad fingernails and dysmorphic facial features (such as thick eyebrows synophrys epicanthal folds low-set ears short philtrum and high-arched palate). Additional reported manifestations include seizures and skeletal and genital anomalies among others. There have been no further descriptions in the literature since 1989.

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 September 2023.

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