Bannayan-Riley-Ruvalcaba syndrome

(redirected from Bannayan-Zonana syndrome)
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Bannayan-Riley-Ruvalcaba syndrome

A rare autosomal dominant disorder (OMIM:153480) characterised by: excessive growth before and after birth; increased birth weight and length; macrocephaly often with scaphocephaly; normal intelligence or mild mental retardation; multiple subcutaneous hamartomas, lipomas, macrocephaly and hemangiomas; ocular defects (strabismus, ocular hypertelorism, exotropia and/or pseudopapilledema, hypotonia); drooling; delayed speech development and/or significant delay in developmental milestones (sitting, standing, walking); hamartomatous polyps in gastrointestinal tract and oropharynx; marbled  skin pigmentation (cutis marmorata and pigmented macules on the penis or vulva); and myopathy.

Molecular pathology
Like Peutz-Jeghers syndrome, juvenile polyposis, Cowden syndrome, Proteus syndrome and Proteus-like syndrome, Bannayan-Riley-Ruvalcaba syndrome is caused by mutations of PTEN, all of which are known as PTEN hamartoma-tumour syndromes.
References in periodicals archive ?
All of these conditions aid in the differential diagnosis of Proteus Syndrome, which can be challenging because Klippel-Trenaunay-Weber syndrome, Maffucci's syndrome, enchondromatosis, neurofibromatosis type I, Bannayan-Zonana syndrome, hemihyperplasia, and Madelung's disease can also cause overgrowth [24, 27].