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visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

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

MONDO:0019133

Overview

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).

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Multicystic kidney dysplasia, Retrognathia, Broad forehead, and Long philtrum and others; and common findings: Cryptorchidism, Microcephaly, Low-set ears, and Protruding ear and others.

Organ System	Phenotype Count	Example Features
Eyes	2	Strabismus, Ptosis

Prognosis

Phenotype severity distribution: 12 very common features, 13 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 8:32 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:73246

GARD

Genetic and Rare Diseases Info Center

GARD:18923

Questions for Your Care Team

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

Overview

Clinical Presentation

Prognosis

Medical References

External Resources

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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