Other Names for this Disease
- Bannayan-Zonana syndrome
- Macrocephaly multiple lipomas and hemangiomata
- Macrocephaly pseudopapilledema and multiple hemangiomas
The characteristic features of BRRS are macrocephaly (larger than normal sized head), intestinal polyposis (multiple benign polyps in the intestines), lipomas (tumors below the skin made up of fatty tissue), and pigmented skin lesion (macule) in the area of the penis called the glans penis. Other common features of BRRS include high birth weight, developmental delay, mental deficiency, myopathy (problems with the tone and contraction of skeletal muscles [muscles that control voluntary movements]) of the proximal muscles (click here to view diagram of the location of proximal muscles), joint hyperextensibility (unusually large range of joint movement), pectus excavatum (sunken chest), and scoliosis.
Last updated: 3/18/2013
- Eng C. PTEN Hamartoma Tumor Syndrome (PHTS). GeneReviews. April 2012; http://www.ncbi.nlm.nih.gov/books/NBK1488/. Accessed 3/18/2013.