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Bannayan-Riley-Ruvalcaba syndrome

Written1998-11Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)


Other namesBannayan-Zonana syndrome
Riley-Smith syndrome
Ruvalcaba-Myhre-Smith syndrome
Macrocephaly, pseudopapilledema, multiple hemangiomata
Macrocephaly, multiple lipomas, hemangiomata
Atlas_Id 10044
Genes implicated inPTEN  
Inheritance autosomal dominant; existence of sporadic cases


Note Bannayan-Riley-Ruvalcaba syndrome is an overgrowth syndrome / hamartomatous polyposis condition with an increased risk of benign and malignant tumours; other overgrowth syndromes at (known) risk of tumourigenesis are :
  • Beckwith-Weideman syndrome,
  • Sotos syndrome (cerebral gigantism),
  • Hemihyperplasia (hemihypertrophy), and
  • Simpson Golabi Behemel syndrome.
  • Phenotype and clinics onset in chilhood (in contrast with Cowden disease, although an allelic disorder, see below); more often found in male patients (lower penetrance in female patients).
    - overgrowth at birth (postnatal growth decelerates).
    - macrocephaly
    - hypotonia and mental deficiency
    - subcutaneous and visceral lipomas and hemangiomas, and intestinal juvenile polyposis.
    - myopathy of the proximal type in 2/3 of cases
    - pigmentation spots of the male genitalia
    Neoplastic risk
  • multiple lipomas (75% of cases).
  • hemangiomas (40%).
  • hamartomatous polyps (ileus and colon; 45%).
  • lymphangiomas (10%).
  • Genes involved and Proteins

    Gene NamePTEN (Phosphatase and Tensin homolog deleted on chromosome Ten)
    Location 10q23.31
    Description 403 amino acids
    Function protein tyrosine phosphatase; tumour suppressor gene
    Germinal may be not all Bannayan-Riley-Ruvalcaba syndrome cases are due to PTEN mutations; germ-line mutations have also been described in Cowden disease and in some cases with juvenile polyposis syndrome.
    Somatic PTEN is mutated in a large number of cancer types


    Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease.
    Arch EM, Goodman BK, Van Wesep RA, Liaw D, Clarke K, Parsons R, McKusick VA, Geraghty MT
    American journal of medical genetics. 1997 ; 71 (4) : 489-493.
    PMID 9286463
    Lipomatosis, angiomatosis, and macrencephalia. A previously undescribed congenital syndrome.
    Bannayan GA
    Archives of pathology. 1971 ; 92 (1) : 1-5.
    PMID 5091590
    Absence of PTEN/MMAC1 germ-line mutations in sporadic Bannayan-Riley-Ruvalcaba syndrome.
    Carethers JM, Furnari FB, Zigman AF, Lavine JE, Jones MC, Graham GE, Teebi AS, Huang HJ, Ha HT, Chauhan DP, Chang CL, Cavenee WK, Boland CR
    Cancer research. 1998 ; 58 (13) : 2724-2726.
    PMID 9661881
    Inherited macrocephaly-hamartoma syndromes.
    DiLiberti JH
    American journal of medical genetics. 1998 ; 79 (4) : 284-290.
    PMID 9781909
    Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation.
    Marsh DJ, Coulon V, Lunetta KL, Rocca-Serra P, Dahia PL, Zheng Z, Liaw D, Caron S, Duboué B, Lin AY, Richardson AL, Bonnetblanc JM, Bressieux JM, Cabarrot-Moreau A, Chompret A, Demange L, Eeles RA, Yahanda AM, Fearon ER, Fricker JP, Gorlin RJ, Hodgson SV, Huson S, Lacombe D, Eng C
    Human molecular genetics. 1998 ; 7 (3) : 507-515.
    PMID 9467011
    Germline mutations in PTEN are present in Bannayan-Zonana syndrome.
    Marsh DJ, Dahia PL, Zheng Z, Liaw D, Parsons R, Gorlin RJ, Eng C
    Nature genetics. 1997 ; 16 (4) : 333-334.
    PMID 9241266
    Macrocephaly, pseudopapilledema and multiple hemangiomata: a previously undescribed heredofamilial syndrome.
    Riley HD Jr and Smith WR
    Pediatrics. 1960 ; 26 : 293-300.
    Sotos syndrome with intestinal polyposis and pigmentary changes of the genitalia.
    Ruvalcaba RH, Myhre S, Smith DW
    Clinical genetics. 1980 ; 18 (6) : 413-416.
    PMID 7449178


    This paper should be referenced as such :
    Huret, JL
    Bannayan-Riley-Ruvalcaba syndrome
    Atlas Genet Cytogenet Oncol Haematol. 1999;3(1):52-53.
    Free journal version : [ pdf ]   [ DOI ]
    On line version :

    Other genes implicated (Data extracted from papers in the Atlas) [ 1 ]

    Genes PTEN

    External links

    OrphanetBannayan-Riley-Ruvalcaba syndrome
    Other databaseBannayan-Riley-Ruvalcaba syndrome (GARD)
    Genes implicated inPTEN   [ Atlas ]   [ Entrez ]  [ LOVD ]  [ GeneReviews ]  

    REVIEW articlesautomatic search in PubMed
    Last year articlesautomatic search in PubMed

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    indexed on : Fri Oct 1 16:52:21 CEST 2021

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