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neurodevelopmental disorder with structural brain anomalies and dysmorphic facies - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neurodevelopmental disorder with structural brain anomalies and dysmorphic facies

MONDO:0032820

Also known as:NEDBAF

Overview

GeneticsAutosomal dominant · RAC3 (chr 17)

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 always present findings: Long philtrum, Anteverted nares, Short nose, and Severe intellectual disability and others; and very common findings: Feeding difficulties. 26 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Seizure, Severe intellectual disability, Hydrocephalus

Genetic Landscape

RAC3 function has not been fully characterized.

Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies is associated with mutations in the RAC3 gene on chromosome 17.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for RAC3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for neurodevelopmental disorder with structural brain anomalies and dysmorphic facies has been reported in the published literature.

Prognosis

Phenotype severity distribution: 14 always present features, 1 very common feature, 2 common features.

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

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for neurodevelopmental disorder with structural brain anomalies and dysmorphic facies.

12 publications have been identified in PubMed for neurodevelopmental disorder with structural brain anomalies and dysmorphic facies. Research spans Basic Science / Preclinical (50%), Case Report / Case Series (25%), and Diagnostic / Biomarker (8%).

Research Type	Count	% of Total
Laboratory research	6	50%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 11:57 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618577

Orphanet

European rare disease database

Orphanet:659609

Questions for Your Care Team

→Should I pursue genetic testing for RAC3, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

neurodevelopmental disorder with structural brain anomalies and dysmorphic facies

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

neurodevelopmental disorder with structural brain anomalies and dysmorphic facies

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications