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

Rare Disease

orofaciodigital syndrome X

MONDO:0008137

Also known as:Figuera syndromeOFD10oral-facial-digital syndrome type 10

Overview

Oral-facial-digital syndrome, type 10 is characterized by facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and digital (oligodactyly, preaxial polydactyly) features, associated with remarkable radial shortening, fibular agenesis and coalescence of tarsal bones. The syndrome has been described in one 10-month-old girl. No new cases have been described since 1993.

GeneticsAutosomal dominant

Newborn Screening41 states (Carnitine Palmitoyltransferase Type II Deficiency)

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: Preaxial hand polydactyly, Cleft palate, Telecanthus, and Fibular aplasia and 4 more.

Organ System	Phenotype Count	Example Features
Arms and legs	2	Preaxial hand polydactyly, Finger aplasia
Head and neck

Diagnosis

Orofaciodigital syndrome X is included in newborn screening programs (Carnitine Palmitoyltransferase Type II Deficiency) in 41 states.

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 orofaciodigital syndrome X.

12 publications have been identified in PubMed for orofaciodigital syndrome X. Research spans Case Report / Case Series (67%), Basic Science / Preclinical (17%), and Other (8%).

Research Type	Count	% of Total
Patient case studies	8	67%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 9:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:165590

Orphanet

European rare disease database

Orphanet:2756

GARD

Genetic and Rare Diseases Info Center

GARD:4061

Questions for Your Care Team

→What follow-up testing and early intervention is recommended after a positive newborn screen?
→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 X

Overview

Clinical Presentation

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

orofaciodigital syndrome X

Overview

Clinical Presentation

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications