Oral-Facial-Digital+Syndrome+Type+1

=**Oral-facial-digital syndrome Type 1.**=

There are many different type of this disorder classified by number. This particular type (one) is called Papillon-Leage-Psaume syndrome.




**Root cause of disease: X-Linked genetic disorder **
This disorder is a genetic disorder that is x-linked, meaning it is on the X chromosome. OFD1 encodes for a centrosomal protein and is subject to X inactivation. Mutations of the OFD 1 gene create this syndrome in type 1 and type 2. The function of this gene controls centrioles length of the proceeding cells.

**Affected cell types/tissues/organs/systems and common symptoms: **
As said in its name, it affects the oral cavity, facial tissues, one’s digits on their hands or feet, and also can cause kidney problem. Abnormalities affect bone, muscle, and tissue growth resulting in features such as lobed tongue, tongue hamartomas, cleft palate and/or lip, alveolar clefts, missing or doubled teeth, and malocclusion of teeth. Facially, lips may be abnormal sized, facial asymmetry, micrognathia, broad nasal ridge, brittle hair, and many others. Digitally, these people may have doubling of metatarsals or metacarpals, bending of the 5th digit, irregular bone mineralization, and other various features affecting angles and numbers of fingers and toes. Polycystic kidney disease and intracerebral cysts are also commonly occuring in Type 1. The gene is on the X chromosome resulting males having this syndrome in full effect of they inherit this gene. This disease has a high mortality rate on males when they are young, therefore, not many male adults have this.

**Historical background:**
There is not much on the historical background of this disease other than the first few cases and identification of this disease. As medical technology has evolved, the detection and treatment of this syndrome has dramatically expanded. Oral-facial-digital syndrome includes a series of syndromes with different characteristics. Otto J Mohr, a norwegian geneticist published his first case and findings of this collaborative syndrome in 1941, which is now known today as type 2 (Mohr’s syndrome). About a decade later in 1954, Jean Psaume and Eline Papillon-Leage found a branch off Mohr’s findings that then became type 1. These are the most popular types of the OFD syndrome.

**Standard treatments: **
Diagnosis is done at birth by physical features and abnormalities. It is very rare to be born with just the kidney malfunction, but if so that is usually diagnosed around later childhood into the teens. If physical symptoms are observed, the genetic testing is done to target the ODF1 gene to view mutations characteristics. Once diagnosed, there are ways to help reduce the physical features. For example, orthodontia can be done to help fix teeth abnormalities and malocclusion, cleft lip and palate require oral surgery, and to help renal disease. There are therapists recommended for speech. About 65% of OFD syndrome patients have brain abnormalities and for that type of treatment there is orthoscopic surgery, brain surgery, medicines, and sometime there is no way to fully get rid of the disorders symptoms. Molecular genetic testing tests directly for the OFD 1 gene. There are two different methods for clinical testing: sequence analysis and duplication and deletion analysis. Both test the partial and whole genome for the gene deletions and the sequence analysis also tests for differences in the sequence.

**Current research:**
Most of the research today focusing on this syndrome focuses on the study of the brain and the affect OFD1 has on cerebral development. The affects on the tissue of the oral cavity and bone growth in the digit seem to be well understood and therefore is not considered “current research.” Many experiments have been ran testing the way OFD1 affects forebrain development in the embryonic stages. For example, an experiment was ran on mice testing ciliary axonemes with inactivation of the OFD1 gene. Scientists need to get a better understanding to exactly what is happening at the genetic level.

Alberts, B., Johnson, A., Lewis, J., Raff, M., Roberts, K., & Walter, P. (2008). //Molecular Biology of the Cell// (5th ed.). NY, NY: Garland Science. Chen, H. (2012). Oral-Facial-Digital Syndrome. In H. Chen (Author), //Atlas of genetic diagnosis and counseling// (2nd ed., Vol. 1, pp. 1607-1608). Springer. [] 978-1-4614-1037-9_184 Toriello HV, Franco B. Oral-Facial-Digital Syndrome Type I. 2002 Jul 24 [Updated 2013 Feb 28]. In: Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1188/ http://www.socialstyrelsen.se/rarediseases/oral-facial-digitalsyndromeian#anchor_1  []
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