Disease Information for Bannayan Riley Ruvalcaba Syndrome

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Disease Mechanism & Classification
Process
PROCESS/Phakomatosis/congenital (ex)
Definition

Bannayan"s syndrome;Bannayan-Riley-Ruvalcaba; Bannayan-Zonana syndrome; Riley-Smith syndrome; Ruvalcaba Myhre-Smith syndrome; Macrocephaly-hamartomas syndrome;

A very rare familial disease with a predilection in males; It manifests with symmetrical macrocephaly without ventricular enlargement, mild neurological dysfunction, and postnatal growth retardation; Mesodermal hamartomas are present and most patients have discrete lipomas and haemangiomas; Associated disorders may include antimongoloid palpebral fissures, high-arched palate, joint hyperextensibility, pectus excavatum, strabismus, amblyopia, drooling, mental retardation, cerebral haemorrhage, and seizures; Inheritance is autosomal dominant; Bannayan Riley Ruvalcaba Syndrome; BRRS;

Bannayan-Zonana syndrome (BZS); Macrocephaly, multiple lipomas, and hemangiomata; Macrocephaly, pseudopapilledema, and multiple hemangiomata;Ruvalcaba-Myhre-Smith syndrome (RMSS)characterized by excessive growth before and after birth; an abnormally large head (macrocephaly) that is often long and narrow (scaphocephaly); normal intelligence or mild mental retardation; and/or benign tumor-like growths (hamartomas) that, in most cases, occur below the surface of the skin (subcutaneously);he symptoms of this disorder vary greatly from case to case; n most cases, infants with Bannayan-Riley-Ruvalcaba syndrome exhibit increased birth weight and length. As affected infants age, the growth rate slows and adults with this disorder often attain a height that is within the normal range; dditional findings associated with Bannayan-Riley-Ruvalcaba syndrome may include eye (ocular) abnormalities such as crossed eyes (strabismus), widely spaced eyes (ocular hypertelorism), deviation of one eye away from the other (exotropia), and/or abnormal elevation of the optic disc so that it appears swollen (pseudopapilledema); in addition, affected infants may also have diminished muscle tone (hypotonia); excessive drooling; delayed speech development; and/or a significant delay in the attainment of developmental milestones such as the ability to sit, stand, walk, etc; In some cases, multiple growths (hamartomatous polyps) may develop within the intestines (intestinal polyposis) and, in rare cases, the back wall of the throat (pharynx) and/or tonsils; Additional abnormalities associated with

this disorder may include abnormal skin coloration (pigmentation) such as areas of skin that may appear "marbled" (cutis marmorata) and/or the development of freckle-like spots (pigmented macules) on the penis in males or the vulva in females; In some cases, affected individuals may also have skeletal abnormalities and/or abnormalities affecting the muscles (myopathy); Bannayan-Riley-Ruvalcaba syndrome is inherited as an autosomal dominant genetic trait; --------------[whonamedit_com 2005]---------

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