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parietal foramina with cleidocranial dysplasia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

parietal foramina with cleidocranial dysplasia

MONDO:0008198

Also known as:parietal foramina with cleidocranial dysostosisPFMCCDcleidocranial dysplasia with parietal foramina

Overview

Parietal foramina with clavicular hypoplasia is a rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported.

GeneticsAutosomal dominant · MSX2 (chr 5)

Clinical Presentation

Features include always present findings: Parietal foramina. 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	1	Macrocephaly

Explore clinical features

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.

MSX2 encodes msh homeobox 2 (267 aa). Acts as a transcriptional regulator in bone development. Represses the ALPL promoter activity and antagonizes the stimulatory effect of DLX5 on ALPL expression during osteoblast differentiation. Highest expression in Bladder (17.6 TPM) and Artery Tibial (11.3 TPM).

Parietal foramina with cleidocranial dysplasia is associated with mutations in the MSX2 gene on chromosome 5.

The MSX2 protein participates in RUNX2 gene expression from distal (P1) promoter is inhibited by NKX3-2, MSX2 and RUNX2-P1, and stimulated by DLX5,(DLX6), KLF4 stimulates CDH1 gene transcription, and Expression of MSX1 in the neural plate border pathways.

MSX2 is classified as a druggable target (Transcription Factor Complex category) with score 0.0.

Diagnosis

Genetic testing for MSX2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 6:02 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:168550

Orphanet

European rare disease database

Orphanet:251290

GARD

Genetic and Rare Diseases Info Center

GARD:17207

Questions for Your Care Team

→Should I pursue genetic testing for MSX2, 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?

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parietal foramina with cleidocranial dysplasia

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team