Edinburgh malformation syndrome

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Edinburgh malformation syndrome

Synonyms: Typus Edinburgensis

Edinburgh malformation syndrome is a rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by consistently abnormal facial appearance true or apparent hydrocephalus motor and cognitive developmental delay failure to thrive (feeding difficulties vomiting chest infections) and death within a few months of birth. Carp mouth hairiness of the forehead neonatal hyperbilirubinemia and advanced bone age may also be associated. There have been no further descriptions in the literature since 1991.

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 December 2023

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Edinburgh malformation syndrome?

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