Rosselli-Gulienetti syndrome
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Rosselli-Gulienetti syndrome
| Rosselli-Gulienetti syndrome | |
|---|---|
| Classification and external resources | |
| OMIM | 225000 |
| DiseasesDB | 32747 |
Rosselli-Gulienetti syndrome, also known as Zlotogora-Ogur syndrome[1] and Bowen-Armstrong syndrome[2] is a rare[3] type of congenital Ectodermal Dysplasia syndrome. The syndrome is relatively rare[4] 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 an autosomal dominant pattern of inheritance with incomplete penetrance[4], and caused by a mutation affecting the T63 gene2.[5] It has been suggested that this syndrome, AEC syndrome and Rap Hodgkin syndrome may be variations of the same disease.[6]. 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.[2]
References
- ^ ORPHANET - About rare diseases - About orphan drugs
- ^ a b Bowen-Armstrong Syndrome
- ^ Zlotogora syndrome; Ectodermal dysplasia, cleft lip and palate, mental retardation, and syndactyly at NIH's Office of Rare Diseases
- ^ a b Bowen P, Armstrong HB (1976). "Ectodermal dysplasia, mental retardation, cleft lip/palate and other anomalies in three sibs". Clin. Genet. 9 (1): 35–42. doi:10.1111/j.1399-0004.1976.tb01547.x. PMID 174848.
- ^ Dianzani I, Garelli E, Gustavsson P, et al. (2003). "Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene" (Free full text). J. Med. Genet. 40 (12): e133. doi:10.1136/jmg.40.12.e133. PMC 1735338. PMID 14684701. http://jmg.bmj.com/cgi/pmidlookup?view=long&pmid=14684701.
- ^ Zenteno JC, Venegas C, Kofman-Alfaro S (1999). "Evidence that AEC syndrome and Bowen--Armstrong syndrome are variable expressions of the same disease". Pediatr Dermatol 16 (2): 103–107. doi:10.1046/j.1525-1470.1999.99009.x. PMID 10337671. http://www.blackwell-synergy.com/openurl?genre=article&sid=nlm:pubmed&issn=0736-8046&date=1999&volume=16&issue=2&spage=103.
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