Rosselli-Gulienetti syndrome
| Rosselli-Gulienetti syndrome | |
| 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[2] is a rare[3] type of an congenital Ectodermal Dysplasia syndrome. The syndrome is relatively new[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 a autosomal dominant form of genetic inheritance with incomplete penetrance[4], with 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
- ↑ http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=3253
- ↑ 2.0 2.1 http://www.patient.co.uk/showdoc/40001511
- ↑ http://rarediseases.info.nih.gov/asp/diseases/diseaseinfo.asp?ID=375
- ↑ 4.0 4.1 Bowen P, Armstrong HB; Ectodermal dysplasia, mental retardation, cleft lip/palate and other anomalies in three sibs.;Clin Genet 1976 Jan;9(1):35-42.[abstract]
- ↑ Dianzani I, Garelli E, Gustavsson P, et al; Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene.;J Med Genet 2003 Dec;40(12):e133.Full text (Subscription service)
- ↑ Zenteno JC, Venegas C, Kofman-Alfaro S; Evidence that AEC syndrome and Bowen--Armstrong syndrome are variable expressions of the same disease.;Pediatr Dermatol 1999 Mar-Apr;16(2):103-7. Full text (Subscription service)