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orofaciodigital syndrome 16 (OFD16) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

orofaciodigital syndrome 16

MONDO:0033045

Also known as:OFD16Ofds 16oral-Facial-digital syndrome, type 16

Overview

GeneticsAutosomal recessive · TMEM107 (chr 17)

ResearchLimited published research (7 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 always present findings: Inguinal hernia, Postaxial hand polydactyly, Low muscle tone (hypotonia), and Global developmental delay and others. 21 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Inability to walk, Global developmental delay, Ataxia

Genetic Landscape

TMEM107 function has not been fully characterized.

Orofaciodigital syndrome 16 is associated with mutations in the TMEM107 gene on chromosome 17.

Diagnosis

Genetic testing for TMEM107 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 10 always present 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 orofaciodigital syndrome 16.

7 publications have been identified in PubMed for orofaciodigital syndrome 16. Research spans Case Report / Case Series (43%), Basic Science / Preclinical (29%), and Other (14%).

Recent Publications

Vazquez N (2025). [PMID: 40593758](https://pubmed.ncbi.nlm.nih.gov/40593758/). *Nat Commun*. [Basic Science / Preclinical]
Shankarappa B (2025). [PMID: 39911166](https://pubmed.ncbi.nlm.nih.gov/39911166/). *Mol Syndromol*. [Case Report / Case Series]
Lo Giudice M (2025). [PMID: 40565597](https://pubmed.ncbi.nlm.nih.gov/40565597/). *Genes (Basel)*. [Case Report / Case Series]
Jia SS (2024). [PMID: 39137032](https://pubmed.ncbi.nlm.nih.gov/39137032/). *JMIR Public Health Surveill*. [Other]
Mata M (2024). [PMID: 39696129](https://pubmed.ncbi.nlm.nih.gov/39696129/). *BMC Pediatr*. [Case Report / Case Series]
Orlova M (2024). [PMID: 39092430](https://pubmed.ncbi.nlm.nih.gov/39092430/). *Front Genet*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 5:36 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617563

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 16

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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