Bannayan-Riley-Ruvalcaba syndrome

Bannayan-Zonana syndrome , Riley-Smith syndrome , Ruvalcaba-Myhre-Smith syndrome , Macrocephaly, pseudopapilledema, multiple hemangiomata , Macrocephaly, multiple lipomas, hemangiomata

autosomal dominant; existence of sporadic cases

153480

D006223

109 Bannayan-Riley-Ruvalcaba syndrome

C0265326

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.

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

403 amino acids

protein tyrosine phosphatase; tumour suppressor gene

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.

PTEN is mutated in a large number of cancer types

6022948 PTEN