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orofaciodigital syndrome 19 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

orofaciodigital syndrome 19

MONDO:0859310

Overview

GeneticsAutosomal recessive · SCNM1 (chr 1)

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: Toe syndactyly, Retrognathia, Wide nasal bridge, and Tongue nodules and others; and common findings: Epicanthus, Narrow palate, Strabismus, and Narrow mouth and others. 40 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	4	Narrow palate, Cleft soft palate, High palate

Genetic Landscape

SCNM1 function has not been fully characterized.

Orofaciodigital syndrome 19 is associated with mutations in the SCNM1 gene on chromosome 1.

Diagnosis

Genetic testing for SCNM1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 8 always present features, 14 common features.

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 3:01 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620107

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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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orofaciodigital syndrome 19

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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