Rosselli-Gulienetti syndrome

Infobox_Disease
Name = Rosselli-Gulienetti syndrome


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DiseasesDB = 32747
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OMIM = 225000
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Rosselli-Gulienetti syndrome, also known as Zlotogora-Ogur syndrome [ [http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=3253 ORPHANET - About rare diseases - About orphan drugs ] ] and Bowen-armstrong syndrome [http://www.patient.co.uk/showdoc/40001511 Bowen-Armstrong Syndrome ] ] is a rare [RareDiseases|375
Zlotogora syndrome; Ectodermal dysplasia, cleft lip and palate, mental retardation, and syndactyly] type of an congenital Ectodermal Dysplasia syndrome. The syndrome is relatively newcite journal |author=Bowen P, Armstrong HB |title=Ectodermal dysplasia, mental retardation, cleft lip/palate and other anomalies in three sibs |journal=Clin. Genet. |volume=9 |issue=1 |pages=35–42 |year=1976 |pmid=174848 |doi= |url=] having only been described in a few cases. There are a range of signs and symptoms including cleft lip or palate, mental retardation and various forms of ectodermal dysplasia. Additional symptoms may include fused eyelids, absent nails, delayed bone growth, dry skin and so on. It is believed that this syndrome follows a autosomal dominant form of genetic inheritance with incomplete penetrance, with a mutation affecting the T63 gene2. [cite journal |author=Dianzani I, Garelli E, Gustavsson P, "et al" |title=Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene |journal=J. Med. Genet. |volume=40 |issue=12 |pages=e133 |year=2003 |pmid=14684701 |pmc=1735338 |doi= |url=http://jmg.bmj.com/cgi/pmidlookup?view=long&pmid=14684701] It has been suggested that this syndrome, AEC syndrome and Rap Hodgkin syndrome may be variations of the same disease. [cite journal |author=Zenteno JC, Venegas C, Kofman-Alfaro S |title=Evidence that AEC syndrome and Bowen--Armstrong syndrome are variable expressions of the same disease |journal=Pediatr Dermatol |volume=16 |issue=2 |pages=103–7 |year=1999 |pmid=10337671 |doi= |url=http://www.blackwell-synergy.com/openurl?genre=article&sid=nlm:pubmed&issn=0736-8046&date=1999&volume=16&issue=2&spage=103] . There is no specific treatment or cure as of yet for individuals affected with this type of syndrome, though surgical correction of any of the deformities is a possibility.

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