Metopic ridging-ptosis-facial dysmorphism syndrome

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Metopic ridging-ptosis-facial dysmorphism syndrome

A rare genetic multiple congenital anomalies/dysmorphic syndrome with variable intellectual disability characterized by abnormal head shape/metopic ridging and facial dysmorphism (which may include arched eyebrows ptosis downslanting palpebral fissures epicanthal folds and short upturned nose). Many patients present variable global developmental delay and/or autism spectrum disorder. Additional reported features are cardiac skeletal or urogenital anomalies. Brain imaging may show agenesis of the corpus callosum.

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: // Data version September 2023.

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