What is Costello syndrome? What are the symptoms of the Costello syndrome?

Costello syndrome is a rare genetic disorder, concerns the different areas of the body. Development of delayed physical and mental retardation are the most distinctive features of the condition. A child with Costello syndrome may have a high birth weight, but the other characters not noticed until the child starts to grow.

Syndrome (Faciocutaneoskeletal), also affects FCS Costello syndrome an estimated 300 people worldwide, with more possibly diagnosed go.

Costello Syndrome was discovered in 1977 by a pediatrician from New Zealand called Dr. Jack Costello. The error may lead to further complications, such as the development of malignant and non-malignant tumors, together with certain heart defects and abnormal heart muscle growth.What are the signs and symptoms of Costello SyndromeA is symptom, that something the patient feels or reports something, although it is a sign that other people, including the doctor recognizes. Headache may be an example of a symptom, is an example of a sign during a rash.

The birth weight of the child with Costello syndrome is slower than most will grow children usually normal or slightly above average, but they. It is not until the child starts to grow, that signs of Costello syndrome begin to develop, some of these are: short in height and slow GrowthMental deficiency flat nasal BridgeCurly HairDifficulty SuckingLarger head is skin LooseLow ears and/or thick EarlobesThicker LipsSurface face feels RoughMisaligned eyes (strabismus) pigmentation of the skin is dark Lair NeckSquintHeart problems/abnormal heart rhythm Please note, that two other genetic conditions, the similarities in symptoms Costello syndrome share it. Noonan syndrome and CFC (Cardiofaciocutaneous) share many characteristics with Costello syndrome, Costello syndrome in infancy diagnosis more difficult make.What are the causes of Costello SyndromeAs previously mentioned, Costello syndrome is a genetic disorder. It is caused by mutations in the HRAS gene. It is this gene that instructs the body, a protein to produce (H-RAS), the cell growth and cell division.

The HRAS mutations that result in cells grow in Costello syndrome and have constantly, as if they were divided have been instructed to occur. This can lead to tumor growth (cancer and non cancer) and will be the cause of the above visual, characters. Costello syndrome can the HRAS gene mutation also negative in the production of elastic fibers in the tissue affected.

Only one copy of the mutated HRAS Costello syndrome gene to develop, so that must be inherited to this type of gene inheritance is called autosomal dominant. Almost every case of Costello syndrome caused by new mutations where there is no family history of the Bedingung.Wie been diagnosed with Costello syndrome?There are two steps involved in diagnosis of Costello syndrome. First is the clinical diagnosis, to see the physical properties of the patient, if they meet certain criteria (examples are: height, size of the head and birth weight).

As a method of diagnosis has not yet perfected, a second stage of the molecular genetic testing is included. The HRAS gene sequence analysis for mutations is responsible. If a mutation of HRAS is unrecognized, the clinical diagnosis should be reviewed.What are the treatment options for Costello syndrome?Available there is no way to cure Costello syndrome, nor is it a special type of treatment of the condition. However, there are ways to help their condition the child, including: with feeding difficulties in InfancyTreatments for heart problems, that DevelopProviding special education for the ChildAn effective way of treating the condition at the genetic level is currently investigated the child help. In 2005 was at a meeting of the American Society of human genetics, presented a new Progeroid treatment. The treatment involved the use of FTI (Farnesyltransferase inhibitor) to H-RAS, it was that FTI was considered as a possible treatment for Costello syndrome after this presentation,.

Costello syndrome could treat other medications that may help include: MEK inhibitor LovastatinAs Costello syndrome is a common condition it are not that many subjects for clinical trials test. For this reason, researchers say that only a medication can effectively be tested at a time. Means to increase this together with the need to finance the research, that it could take a while an effective treatment on the market is brought.

Written by Mike paddock

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