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Bannayan-Riley-Ruvalcaba syndrome

What are the symptoms?

Features of the syndrome that have been noted include:

  • Macrocephaly;
  • Excessive growth before and after birth;
  • Hypotonia (diminished muscle tone);
  • Joint hypermobility;
  • Delayed motor development affecting the ability to sit, stand or walk;
  • Delayed speech development;
  • Learning disability (though normal intellect can occur);
  • Hamartomas (benign tumour-like growths).

There may also be unusual skin markings including haemangiomas, lipomas, and freckling.

As in many syndromes an affected individual may not manifest all these additional features. Severity of any feature of a syndrome can vary widely.

View Background Background  |  How is it diagnosed? View How is it diagnosed?

Medical text written October 2005 by Contact a Family. Approved October 2005 by Dr K Lachlan, Specialist Registrar in Clinical Genetics, Essex Regional Genetics Service, Southampton, UK.

 

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