Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome
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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome?
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