Patau Syndrome
Patau Syndrome, also known as Trisomy 13 and Trisomy D, is a autosomal genetic disorder which is caused due to a chromosomal deviation. It happens to occur due to the presence of an additional chromosome 13 in some or all of the body's cells as a result of nondisjunction during the phase of meiosis. Patau Syndrome may also be caused due to translocation when a section of chromosome 13 attaches itself to another chromosome during the creation of sex cells. The most common symptoms of Trisomy 13 include the following: Cleft lip or palate, clenched hands, decreased muscle tone, extra fingers or toes, deafness as well as mental retardation. Sudden seizures are also one of the characteristics of individuals diagnosed with Patau Syndrome. It has been determined that no particular treatment or therapy exists for this genetic order; however physicians do focus on the individual physical problems with each new born baby. Diligent efforts are conducted toward treating heart defects or cleft facial structures. Furthermore genetic assistance and counseling is facilitated in order to provide support to the parents of an offspring with Trisomy 13 or prospective parents. Trisomy 13 patients often undergo severe neurological obstruction along with complicated heart defects thus the possibility of survival are likely to be extremely difficult. The chances of delivering a child with this disorder increase with an increase in a woman's age.
FOP title
FIBRODYSPLASIA OSSIFICANS PROGRESSIVA
Fibrodysplasia Ossificans Progressiva
Fibrodysplasia Ossificans Progressiva (FOP) is a genetic disorder which involves discrepancies in muscle and connective tissues, causing tendons and ligaments to gradually be replaced by bone. This process of replacement is called ossification. In particular, the specific disorder causes skeletal muscles and soft tissues to transform into bone. Such malfunctions eventually lead to having difficulties in movement and in turn affect joints such as knees, wrists, shoulders, and spine. FOP is caused due to mutations in the activin A receptor, type I (ACVR1) gene. The normal gene originally exists to provide the body with instructions on how to produce the activin receptor type I protein, which is in many body tissues such as skeletal muscles. This protein helps in the regulating the growth and development of muscles and bones. However, a mutation in the ACVR1 gene can cause too much bone to grow which leads to the disorder of FOP. This particular disorder is passed down as an autosomal dominant trait, which means that one copy of the mutated gene in each cell is sufficient thus there are higher probabilities of developing a child with FOP. Individuals diagnosed with FOP are usually discerned by malformed big toes, excessive bone growth, and limited body movements (joints,knees, wrists, shoulders, spine, and neck). Disappointedly, an effective treatment or therapy has yet not been discovered. Surgery may not be the most desirable alternative as to removing the excess bones because the process often leads to even more bone formation. However, physicians are indeed finding some success in developing a drug that may help control bone growth.
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