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parietal foramina 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

parietal foramina 2

MONDO:0012309

Also known as:ALX4 parietal foraminaparietal foramina caused by mutation in ALX4parietal foramina type 2

Overview

Any parietal foramina in which the cause of the disease is a mutation in the ALX4 gene.

GeneticsAutosomal dominant · ALX4 (chr 11)

OnsetCONGENITAL

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: Parietal foramina; and sometimes findings: Hypertelorism, Wide nasal ridge, and Depressed nasal bridge. 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	1	Depressed nasal bridge

Age of onset: at birth.

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

ALX4 encodes ALX homeobox 4 (411 aa). Transcription factor involved in skull and limb development. Plays an essential role in craniofacial development, skin and hair follicle development Highest expression in Breast Mammary Tissue (2.5 TPM) and Skin Not Sun Exposed Suprapubic (1.1 TPM).

Parietal foramina 2 is associated with mutations in the ALX4 gene on chromosome 11.

ALX4 is classified as a druggable target (Transcription Factor and Transcription Factor Complex categories) with score 0.0.

GeneReviews

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 parietal foramina 2. 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 parietal foramina 2.

7 publications have been identified in PubMed for parietal foramina 2. Research spans Basic Science / Preclinical (43%), Review / Meta-Analysis (29%), and Epidemiology / Natural History (29%).

Recent Publications

Seltzer LA (2026). [PMID: 41832921](https://pubmed.ncbi.nlm.nih.gov/41832921/). *Childs Nerv Syst*. [Basic Science / Preclinical]
Cain B (2025). [PMID: 40410151](https://pubmed.ncbi.nlm.nih.gov/40410151/). *Nat Commun*. [Basic Science / Preclinical]
Blázquez A (2025). [PMID: 40071278](https://pubmed.ncbi.nlm.nih.gov/40071278/). *Front Psychiatry*. [Epidemiology / Natural History]
Kilic Safak N (2025). [PMID: 40193663](https://pubmed.ncbi.nlm.nih.gov/40193663/). *Medicine (Baltimore)*. [Epidemiology / Natural History]
Lan Y (2024). [PMID: 38481039](https://pubmed.ncbi.nlm.nih.gov/38481039/). *Dev Dyn*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 1:12 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:609597

GARD

Genetic and Rare Diseases Info Center

GARD:18053

Questions for Your Care Team

→Should I pursue genetic testing for ALX4, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Kisho

parietal foramina 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Enlarged parietal foramina

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Clinical Guidance

Penetrance

Differential Diagnosis

Skeletal

Neurologic

Integument

Genetic counseling

Treatment of Manifestations

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Neurologic

parietal foramina 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Enlarged parietal foramina

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Clinical Guidance

Penetrance

Differential Diagnosis

Skeletal

Neurologic

Integument

Genetic counseling

Treatment of Manifestations

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Neurologic