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Condition report · Musculoskeletal

Enlarged Parietal Foramina (MSX2)

Whole genome sequencing reads the MSX2 gene for inherited changes that leave two openings in the bones at the top and back of the skull larger than usual, a difference that often causes no symptoms.

A condition report looks for rare variants known to cause the conditions it covers.

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About this condition

An inherited skull difference in which two openings in the bones at the top-back of the head are larger than usual. It often causes no symptoms. This report covers the form caused by changes in one copy of the MSX2 gene.

Enlarged parietal foramina are two symmetrical, round openings in the parietal bones at the top and back of the skull. They remain open throughout life because of incomplete bone formation. Most people have no symptoms, although headaches, scalp defects, brain differences and seizures are reported in a smaller number of people.

This form is caused by a change in one copy of the MSX2 gene, which controls bone formation in the skull. Reduced MSX2 function leaves the parietal bones incompletely formed. It is usually inherited from a parent.

Treatment is generally conservative. Imaging assesses the openings, and protecting the head from injury is important, especially in childhood, although surgery is not usually needed. Each child of an affected person has a 1 in 2 chance of inheriting the change, so genetic counselling and family testing can be offered.

The condition we analyse

Autosomal dominant

This form is caused by a change in one copy of the MSX2 gene, which controls bone formation in the skull. Reduced MSX2 function leaves the parietal bones incompletely formed. It is usually inherited from a parent.

Signs and symptoms

Symmetrical, round openings in the parietal bones, which remain open throughout life. Most people have no symptoms. Less often there are headaches, scalp defects over the openings, or brain differences, and seizures have been reported.

What a diagnosis changes

Imaging to assess the openings and protection of the head from injury, especially in childhood; surgery is not usually needed. Each child of an affected person has a 1 in 2 chance of inheriting the change, so genetic counselling and family testing can be offered.

Genes analysed

Also known as

catlin marks; enlarged parietal foramina; fenestrae parietales symmetricae; foramina parietalia permagna; hereditary cranium bifidum; symmetric parietal foramina

Includes 3 related subtypes ↓
  • parietal foramina 1
  • parietal foramina 2
  • parietal foramina 3
MONDO:0018953Orphanet 60015Sources: [1][4][3]

Why whole genome sequencing

Enlarged parietal foramina are usually inherited from a parent, and this report covers only the form caused by MSX2. A negative MSX2 result does not rule out the condition.

Family testing and prenatal options

Each child of an affected person has a 50% chance of inheriting the change. Detailed fetal ultrasound at 18 to 20 weeks can usually detect the defects in a fetus at risk, and prenatal and preimplantation testing are possible once the change is known.

Other genes and deletions are not covered

Enlarged parietal foramina are also caused by changes in ALX4 and by deletions on chromosome 11p11.2, which this report does not cover. A negative MSX2 result therefore does not rule out the condition.

Limitations

  • Enlarged parietal foramina are also caused by changes in the ALX4 gene and by deletions on chromosome 11p11.2, which are not covered by this report. A negative MSX2 result does not rule out the condition.

References

  1. Mavrogiannis LA, Wilkie AOM, 2004. Enlarged Parietal Foramina. GeneReviews
  2. Mavrogiannis LA, Taylor IB, Davies SJ, Ramos FJ, Olivares JL, Wilkie AO, 2006. Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype. European journal of human genetics : EJHG
  3. Enlarged parietal foramina. MedlinePlus Genetics
  4. MSX2 gene. MedlinePlus Genetics

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