Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and. SUMMARY: Bannayan-Riley-Ruvalcaba syndrome is a congenital disorder characterized by macrocephaly, intestinal polyposis, lipomas, and. Bannayan-Riley-Ruvalcaba syndrome, Authors: Jean-Loup Huret. Published in: Atlas Genet Cytogenet Oncol Haematol.

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Purchase access Subscribe to the journal. Create a free personal account to access your subscriptions, sign up for alerts, and more. Bardet—Biedl syndrome Laurence—Moon syndrome.

Abnormality of the cardiovascular system. As with most cancer screening, these recommendations will hopefully help syndrom detect cancers at an earlier stage when they are more treatable, but they cannot prevent the cancer from occurring.

Autosomal dominant is the manner in which this condition is inherited.

Orphanet: Bannayan Riley Ruvalcaba syndrome

Breast General Population Risk: The diagnosis of Cowden syndrome is made when a patient has enough characteristics to meet specific criteria see below. PTEN chromosomal location is 10q Views Read Edit View history. This team may include endocrinologists, gastroenterologists, surgeons, gynecologists, breast health specialists, primary care physicians, geneticists, genetic counselors, hematologists, and oncologists. Petty, MD ; Marci M. Clinical description BRRS shares some of the clinical characteristics of Cowden syndrome CS; see this term but with differing frequencies.

The benign growths commonly affect the breasts, uterus, thyroid gastrointestinal tract, skin, tongue, gums, and neurologic system. By using this site, you agree to the Terms of Use and Privacy Policy. Copyright American Medical Association. Monitoring for complications of gastrointestinal hamartomatous polyposis is very important as they can be more severe than those seen in CS.


If a patient is found to meet clinical or testing criteria, testing of the PTEN gene may be offered. This evaluation includes an evaluation of their personal history, exploration of the family history, and genetic testing if a PTEN gene mutation has previously been identified in the family. The father developed refractory papillary lymphoid hyperplasia of the oropharynx and hypopharynx and has been tracheotomy dependent for more than 10 years, whereas the son’s obstructive sleep apnea resolved after adenotonsillectomy.

Create a free personal account to download free article PDFs, sign up for alerts, and more. Women who are PTEN positive should also see a gynecologic oncologist to discuss what kind of screening for endometrial cancer should be performed.

Specialised Social Services Eurordis directory. The genetics of the Bannayan—Riley—Ruvalcaba syndrome is determined, in the majority of cases, via the PTEN gene which presents about 30 mutations in this condition. Prognosis The prognosis is unknown and is dependent on initial presentation and likely genotype.

Women should perform monthly breast self-examinations and yearly breast screenings as well as transvaginal ultrasounds or endometrial biopsies beginning at the age of For those who are PTEN negative but have a clinical diagnosis of Cowden syndrome, it is not recommend that screening of other organs beyond that mentioned for breast and thyroid cancers, be routinely performed.

This syndrome is suspected in individuals with fatty tumors lipomas on the skin, developmental delays, a large head size macrocephalyhamartomatous polyps in the gastrointestinal tract, vascular malformations such as hemangiomas, and, for boys, freckling on the penis.

Baseline upper endoscopy often is recommended to help establish or confirm the diagnosis and surveillance of the stomach and small bowel is based upon the findings of the baseline exam. Abnormality of neuronal migration.


Renal cell kidney General Population Risk: Antenatal diagnosis Antenatal diagnosis is possible for at-risk pregnancies if the disease causing mutation is discovered in an affected family member.

Angioid streaks of the retina. In patients under the age of 18, a yearly skin check and thyroid ultrasound examination is recommended. Although the risk is much lower than that for women, we would recommend that the men perform monthly breast self-examination. For patients with Cowden syndrome who do not have a PTEN gene mutation, family members may need evaluation by a medical geneticist to determine if they also meet the clinical criteria for a diagnosis of Cowden syndrome.

NORD guide to rare disorders.

Center For Inherited Colon Cancer | Cleveland Clinic

The International Cowden Consortium has developed criteria to establish a diagnosis of Cowden syndrome. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. Yearly dermatologic examination is also recommended. Unlike CS, the classic presentation of BRRS occurs neonatally or shortly thereafter with macrocephaly, Hashimoto struma see this termlipomatosis, vascular malformations bannayan-riley-rivalcaba speckled lentiginosis of the penis or vulva.

From Wikipedia, the free encyclopedia. It is unclear if the case-based signs of myopathic processes in proximal muscles, pectus excavatum, joint hyperextensibility, scoliosis and high birth weight are truly components of BRRS. Antenatal diagnosis is possible for at-risk pregnancies if the disease causing mutation is discovered in an affected family member.