/multiple congenital anomalies/dysmorphic syndrome-intellectual disability

/visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome

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

Rare Disease

MONDO:0019133

Definition

Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome is characterized by facial dysmorphology, neuropathic visceral dysmotility, neurogenic megacystis, intracerebral calcifications and developmental delay. It has been described in two siblings (brother and sister) born to consanguineous parents. The girl also had microcephaly and multicystic kidneys. The boy had a more extensive neuropathic visceral disorder, leading clinically to chronic intestinal pseudo-obstruction syndrome (CIPO).