BANNAYAN-RILEY-RUVALCABA SYNDROME PDF
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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Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For bannayan-rileu-ruvalcaba other comments, please send your remarks via contact us. Only comments written in English can be processed. Bannayan-Riley-Ruvalcaba syndrome BRRS is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.
PTEN Hamartoma Tumor Syndrome, Cowden Syndrome, and Bannayan-Riley-Ruvalcaba Syndrome
hannayan-riley-ruvalcaba Unlike CS, the classic presentation of BRRS occurs neonatally or shortly thereafter with macrocephaly, Hashimoto struma see this termlipomatosis, vascular malformations and speckled lentiginosis of the penis or vulva. Developmental delay and gastrointestinal hamartomatous polyposis occur in a subset of BRRS patients.
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.
Although predisposition to cancer was not thought bannayan-ri,ey-ruvalcaba be a feature of this syndrome, it is now believed that BRRS patients with a PTEN mutation share the same risk of cancer development as CS patients. There are no specific criteria for diagnosis of BRRS but it is usually determined by the clinical presentation.
Antenatal diagnosis is possible for at-risk pregnancies if the disease causing mutation is discovered in an affected family member. BRRS is inherited autosomal dominantly. Genetic counseling can be offered to patients with PTEN mutations and asymptomatic family members should also be tested for the mutation to identify those that need to be monitored before symptom onset.
Management and treatment is multidisciplinary. Monitoring for complications of gastrointestinal hamartomatous polyposis is very important as they can be more severe than those seen in CS. Once a germline PTEN mutation is identified, the patient should undergo a screening thyroid ultrasound exam.
In patients under the age of 18, a yearly skin check and thyroid ultrasound examination is recommended. A colonoscopy and biennial renal imaging should begin between the ages of Women should perform monthly breast self-examinations and yearly breast screenings as well as transvaginal ultrasounds or endometrial biopsies beginning at the age of It is also important to pay attention to neurogical and vascular malformations as well as GI symptoms.
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Disease definition Bannayan-Riley-Ruvalcaba syndrome BRRS is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis. InfancyNeonatal ICD Clinical description BRRS shares some of the clinical characteristics of Cowden syndrome CS; see this term but with differing frequencies.
Diagnostic methods There are no specific criteria symdrome diagnosis of BRRS but it is usually determined by the clinical presentation.
Antenatal diagnosis Antenatal diagnosis is possible for at-risk pregnancies if the disease causing mutation is discovered in an affected family member.
Genetic counseling BRRS is inherited autosomal dominantly. Bannayan-rikey-ruvalcaba and treatment Management and treatment is multidisciplinary. Prognosis The prognosis is unknown and is dependent on initial presentation and likely genotype. Additional information Further information on this disease Classification s 7 Gene s 1 Clinical signs and symptoms Publications in PubMed Other website s 7.
Health care resources for this disease Expert centres Diagnostic tests Patient organisations 71 Orphan drug s 0. Specialised Social Services Eurordis directory. The syndroje contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.