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--StefanieStrohl (talk) 03:33, 4 October 2013 (UTC)--StefanieStrohl (talk) 03:33, 4 October 2013 (UTC)Bold text

Reviewer: Stefanie Strohl 10/3/13The outline displayed good content. Although, it could use more specific details on how people cope with it. It could also use more details on current statistics.

Coffin-Lowry is a rare X-linked dominant genetic disorder, characterized in males by severe mental retardation, facial changes, and progressive skeletal deformations. Manifestations in females vary, but generally their signs and symptoms are less severe than males, with often near-normal intelligence.In very young children, physical characteristics are generally mild and not very speciﬁc. Affected newborn males often show hypotonia and hyperlaxity of joints. Broad, tapering ﬁngers may be present at birth. Facial abnormalities, including hypertelorism, frontal bossing, and thick lips, become apparent in early childhood. Retardation of growth and psychomotor development become apparent gradually in the ﬁrst years of life. The typical facial aspect in adult male patients includes a prominent forehead,epicanthic folds, large prominent ears, and thick everted lips. Approximately 70–80% of pro-bands have no family history of whereas 20–30% have more than one additional affected family member.

History
First characterized by Grange S. Coffin in 1966 and again later by Robert Brian Lowry in 1971, thus the name Coffin-Lowry. In 1975 Dr. Temtamy recognized it as a disease transmitted by an X-linked semidominant inheritance.

Causes
The gene for Coffin-Lowry syndrome is ribosomal S6 kinase 2 (RSK-2), a member of the growth-factor-regulated protein kinase family. The gene is located on the short arm of the X Chromosome.Coffin-Lowry syndrome is caused by heterogeneous loss-of-function mutations in the RSK-2. .The RPS6KA3 gene makes a protein that is involved with signaling within cells. Researchers believe that this protein helps control the activity of other genes and plays an important role in the brain. The protein is involved in cell signaling pathways that are required for learning, the formation of long-term memories, and the survival of nerve cells. The protein RSK2 which is encoded by the RPS6KA3 gene is a kinase which phosphorylates some substrates like CREB and histone H3. RSK2 is involved at the distal end of the Ras/MAPK signaling pathway. Mutations in the RPS6KA3 disturb the function of the protein, but it is unclear how a lack of this protein causes the signs and symptoms of Coffin–Lowry syndrome. At this time more than 120 mutations have been found

Prognosis
There is no cure and no standard course of treatment for Coffin–Lowry syndrome. Treatment is symptomatic and supportive, and may include physical and speech therapy and educational services.

Symptoms
Coffin–Lowry syndrome is a severe mental retardation associated with abnormalities of:
 * Growth
 * In utero growth is normal but post natal growth is retarded. Patients are sometimes microcephalic.
 * Cardio-vascular
 * Cardiac abnormalities affect 15% of the patients.
 * Skeleton
 * Progressive kyphoscoliosis affects 1 in 2 patients. Micrognathia is also associated with this syndrome.
 * Patients may also have an underdeveloped upper jaw bone, abnormally prominent brows, or widely spaced eyes.
 * Vision and audition
 * Auditory abnormalities are frequent and often present. Vision abnormalities are not often present.