Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome

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A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay neuropathic visceral dysmotility (resulting in neurogenic megacystis and sometimes chronic intestinal pseudo-obstruction syndrome) intracerebral calcifications and dysmorphic facial features (including broad forehead downslanted palpebral fissures strabismus protruding and low-set ears and retrognathia). Microcephaly and renal abnormalities have also been reported.

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 Data version May 2024

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