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neurofaciodigitorenal syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neurofaciodigitorenal syndrome

MONDO:0009740

Also known as:Freire Maia-Pinheiro-Opitz syndromeNfdr syndrome

Overview

Neurofaciodigitorenal syndrome is a rare, multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997.

Diagnosis

Biomarker and diagnostic research for neurofaciodigitorenal syndrome has been reported in the published literature.

Prognosis

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 neurofaciodigitorenal syndrome.

32 publications have been identified in PubMed for neurofaciodigitorenal syndrome. Research spans Review / Meta-Analysis (34%), Epidemiology / Natural History (28%), and Diagnostic / Biomarker (16%).

Research Type	Count	% of Total
Research summaries	11	34%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 2:01 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:256690

Orphanet

European rare disease database

Orphanet:2673

GARD

Genetic and Rare Diseases Info Center

GARD:3964

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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neurofaciodigitorenal syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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