Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

neurodevelopmental, jaw, eye, and digital syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neurodevelopmental, jaw, eye, and digital syndrome

MONDO:0030057

Also known as:NEDJED

Overview

GeneticsAutosomal dominant · FBXW11 (chr 5)

ResearchLimited published research (5 articles)

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: Motor delay, Intellectual disability, and Delayed speech and language development; and common findings: Aggressive behavior, Retrognathia, Lateral ventricle dilatation, and Hypoplasia of the corpus callosum and others. 34 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Aggressive behavior, Intellectual disability, Delayed speech and language development

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

FBXW11 encodes F-box and WD repeat domain containing 11 (542 aa). Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Highest expression in Brain Cerebellar Hemisphere (56.4 TPM) and Artery Tibial (41.3 TPM).

Neurodevelopmental, jaw, eye, and digital syndrome is associated with mutations in the FBXW11 gene on chromosome 5.

The FBXW11 protein participates in SCF-beta-TrCP ubiquitinylates IkB pathway.

FBXW11 is classified as a druggable target with score 0.0.

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 FBXW11 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for neurodevelopmental, jaw, eye, and digital syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 very common features, 6 common features.

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, jaw, eye, and digital syndrome.

5 publications have been identified in PubMed for neurodevelopmental, jaw, eye, and digital syndrome. Research spans Basic Science / Preclinical (60%), Diagnostic / Biomarker (20%), and Case Report / Case Series (20%).

Recent Publications

Xu H (2026). [PMID: 41189326](https://pubmed.ncbi.nlm.nih.gov/41189326/). *HGG Adv*. [Basic Science / Preclinical]
Wong K (2025). [PMID: 40389436](https://pubmed.ncbi.nlm.nih.gov/40389436/). *Nat Commun*. [Basic Science / Preclinical]
Wang X (2025). [PMID: 40589517](https://pubmed.ncbi.nlm.nih.gov/40589517/). *Front Endocrinol (Lausanne)*. [Basic Science / Preclinical]
Zeng Z (2025). [PMID: 40188065](https://pubmed.ncbi.nlm.nih.gov/40188065/). *Hum Genomics*. [Diagnostic / Biomarker]
Maznina A (2025). [PMID: 40178747](https://pubmed.ncbi.nlm.nih.gov/40178747/). *Neurogenetics*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:42 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618914

GARD

Genetic and Rare Diseases Info Center

GARD:18523

Questions for Your Care Team

→Should I pursue genetic testing for FBXW11, 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?

← Back to All Diseases

neurodevelopmental, jaw, eye, and digital syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features