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

Rare Disease

frontonasal dysplasia

MONDO:0016643

Also known as:median cleft face syndromeFND1frontonasal dysplasia 1

Overview

A group of rare bone development disorders characterized by an array of abnormalities affecting the eyes, forehead, and nose, and linked to midfacial dysraphia. The clinical picture is highly variable, but the major findings include hypertelorism, a broad nasal root, a large and bifid nasal tip, and widow's peak. Occasionally, abnormalities can include accessory nasal tags, cleft lip, ocular abnormalities (coloboma, cataract, microphthalmia), conductive hearing loss, basal encephalocele and/or agenesis of the corpus callosum. Intellectual deficit is rare and more likely to occur in cases where hypertelorism is severe or where there is extra-cranial involvement.

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.

No HPO annotations are available for this condition.

GeneReviews

Clinical Guidance

Isolated enlarged parietal foramina caused by a heterozygous ALX4 or MSX2 pathogenic variant are primary osseous defects that are usually asymptomatic. Enlarged parietal foramina/ cranium bifidum may present as an unexpected finding on prenatal ultrasound examination, as a large posterior fontanelle in infancy, or as a coincidental finding on skull radiography in children or adults. To date, at least 100 individuals have been identified with enlarged parietal foramina caused by a heterozygous ALX4 or MSX2 pathogenic variant. Cranium bifidum tends to resolve into distinct enlarged parietal foramina over the first few years of life through the midline ossification of a central bridge of bone bisecting the defect .

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

No consensus clinical diagnostic criteria for enlarged parietal foramina have been published. In practice, confounding with minute parietal foramina, which are normal anatomic variations, is very unlikely given the size, location, and natural history of the defects, as well as the positive family history.

Suggestive Findings

Enlarged parietal foramina should be suspected in probands with the following clinical and imaging findings and family history. Clinical findings. A palpable, soft, flattened region behind the apex of the skull, symmetric across the midline; the bony border may be palpable.

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for frontonasal dysplasia. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for enlarged parietal foramina have been published. In the absence of published guidelines, the following recommendations are based on the authors' personal experience managing individuals with this disorder, together with review of the literature.

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs of an individual diagnosed with enlarged parietal foramina, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended.

Table 6.

Enlarged Parietal Foramina: Recommended Surveillance

System/Concern | Evaluation | Frequency

Enlarged parietal foramina

| Assess defect clinically; follow-up radiographs rarely required. | Every 6-12 mos until natural history established

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 frontonasal dysplasia.

19 publications have been identified in PubMed for frontonasal dysplasia. Research spans Basic Science / Preclinical (42%), Case Report / Case Series (32%), and Clinical Trial Publication (16%).

Research Type	Count	% of Total
Laboratory research	8	42%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 7:51 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:250

GARD

Genetic and Rare Diseases Info Center

GARD:2392

Questions for Your Care Team

→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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Kisho

frontonasal dysplasia

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Enlarged parietal foramina

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Skeletal

Neurologic

Integument

Genetic counseling

Treatment of Manifestations

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Neurologic

Recent Publications

frontonasal dysplasia

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Enlarged parietal foramina

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Skeletal

Neurologic

Integument

Genetic counseling

Treatment of Manifestations

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Neurologic

Recent Publications