Rosselli-Gulienetti syndrome

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Rosselli-Gulienetti syndrome Classification and external resources
ICD-10	GroupMajor.minor
ICD-9	xxx
OMIM	225000
DiseasesDB	32747

Rosselli-Gulienetti syndrome, also known as Zlotogora-Ogur syndrome^[1] and Bowen-armstrong syndrome^[1] is a rare^[1] type of an congenital Ectodermal Dysplasia syndrome. The syndrome is relatively new^[1] 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^[1], with a mutation affecting the T63 gene2.^[1] It has been suggested that this syndrome, AEC syndrome and Rap Hodgkin syndrome may be variations of the same disease.^[1]. 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.^[1]

References