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frontofacionasal dysplasia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

frontofacionasal dysplasia

MONDO:0009247

Also known as:Gollop syndromeFfndFrontofacionasal dysostosis

Overview

Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes).

GeneticsAutosomal recessive

ResearchLimited published research (3 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: S-shaped palpebral fissures, Cranium bifidum occultum, Midline defect of the nose, and Microcornea and 21 more.

Organ System	Phenotype Count	Example Features
Eyes	2	Cataract, Ptosis
Head and neck

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 frontofacionasal dysplasia.

3 publications have been identified in PubMed for frontofacionasal dysplasia. Research spans Review / Meta-Analysis (33%), Case Report / Case Series (33%), and Epidemiology / Natural History (33%).

Recent Publications

Seeor LM (2025). [PMID: 40321490](https://pubmed.ncbi.nlm.nih.gov/40321490/). *Indian journal of orthopaedics*. [Epidemiology / Natural History]
Elewee A (2025). [PMID: 40769048](https://pubmed.ncbi.nlm.nih.gov/40769048/). *International journal of surgery case reports*. [Case Report / Case Series]
Guo C (2024). [PMID: 38858685](https://pubmed.ncbi.nlm.nih.gov/38858685/). *BMC pregnancy and childbirth*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 11:35 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:229400

Orphanet

European rare disease database

Orphanet:1791

GARD

Genetic and Rare Diseases Info Center

GARD:2390

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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frontofacionasal dysplasia

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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