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Ehlers-Danlos syndrome with periventricular heterotopia

Synonym(s) EDS with periventricular heterotopia
Prevalence <1 / 1 000 000
Inheritance X-linked dominant
Age of onset Childhood
  • Q79.6
MeSH -
MedDRA -


Disease definition

Ehlers-Danlos syndrome (EDS) with periventricular heterotopia is a newly described variant of EDS.


The prevalence is unknown.

Clinical description

Affected patients exhibit features consistent with EDS, including joint hypermobility, skin fragility and aortic dilatation. They also have periventricular heterotopia (PH), which is characterized by focal epilepsy usually beginning in the second decade of life. Intelligence is generally normal. Some patients also have cardiac anomalies such as patent ductus arteriosus, bicuspid aortic valves, or aneurismal dilatation of the sinus of Valsalva.


Like most familial cases of isolated PH, EDS with periventricular heterotopia is caused by mutations in the filamin A gene (FLNA) located at locus Xq28 on the long arm of chromosome X. This suggests a novel cause of EDS.

Diagnostic methods

Diagnosis of PH is made through magnetic resonance imaging (MRI), which may also reveal enlarged cisterna magna.

Genetic counseling

The disease is transmitted as an X-linked dominant trait, affecting females and probably leading to death of male foetuses in utero.

Management and treatment

In most cases, management through anti-convulsant drugs is sufficient for controlling focal epilepsy. Connective tissue manifestations require specific management.

Expert reviewer(s)

  • Pr Dominique GERMAIN

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