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 April 2024
Newly diagnosed with
Edinburgh malformation syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Clinical Trials
For a list of clinical trials in this disease area, please click here.