Pfeiffer Syndrome Research Paper

Achondroplasia is when cartilage during development is not developed into bone, which results in dwarfism. This condition also characterized by short limbs is initiated by a gain of function mutation in the FGFR3 gene. This mutation is a point mutation. When this mutation occurs, the receptor of the FGF does not need the FGF signal to be activated. This causes the chondrocytes to stop dividing and start differentiating into cartilage prematurely and the bones fail to grow to their proper length, thus resulting in the short limbs that result from this mutation. (textbook) The FGFR3 gene encodes for the Fibroblast growth factor receptor 3 protein. Textbook

Craniosacral Therapy is a technique that uses massage to apply pressure to simulate circulation in the brain and spinal regions (Upledger, 2001). This therapy works by the notion the body is one component and each parts needs the other in order to function properly (Upledger, 2001). Craniosacral treatment brings relaxation to the

Genetics determine the traits an individual will inherit from their parents. In society today, the role of genetics is crucial; they decide ones physical appearance as well as their personality. However, if there is a mutation located in one of the genes that a child receives it is very likely a deformity will be present. A rare yet fatal defect from a gene mutation such as this is Progeria. This disorder is an unfortunate one that may occur in two forms, either Hutchison-Gilford Progeria or Werner syndrome. Not only do they affect the bone structure and appearance of the child, but they substantially shorten their life spans.

Hutchinson-Gilford Progeria syndrome, also known as HGPS, or Progeria, is a very rare genetic disease caused by a mutation in the cell. In 1886, Jonathan Hutchinson first reported case of a 3 ½ year old boy who had the appearance of an old man. In 1897 Hastings Gilford reported a second case with similar features. However, this mystery disease didn’t have a name until 1904, when it was named after the two men. People who have HGPS usually star showing symptoms by the age of 2, and only live to be a teen-mid-20s.

Craniosacral Therapy and Myofascial Release can assist with a wide range of conditions and health issues: from

This syndrome is from a mutation of a gene on chromosome 15 and this causes problems in the production of fibrillin-1 which is a protein that is an important part of connective tissue. The name for the gene is FBN1. Basically, it is the “glue” that helps to support the tissues in the human body. A child born to a parent with this syndrome has a 50% of having it. However, in the remaining 25%, neither parent has the disease which gives them a 1 in 10,000 chance of having a child with this disorder. When a child of two unaffected parents is born with it then the genetic mutation occurs in either the egg or sperm cell at the time of conception.

Many times, if a child is brought in early enough, we can tackle some or all of their developmental issues before determining if braces are needed. Before the application of braces, we like to use what we call Phase I treatment. Phase I treatment can consist of a variety of dentofacial orthopedic therapies in order to guide the growth of your child’s jaw. This can solve some bite issues, spatial issues, and more. To learn more about dentofacial orthopedics, please visit our page here.

Type III: a portion of the lower back part of the brain (cerebellum) or the brainstem extends through an abnormal

It is characterized by the severe skeletal deformity, weak bone mineralization and multiple fractures intrauterine, prior to birth. OI type III is the most severe of the 4 most common that is compatible with life after the perinatal period. A progressive skeletal deformity is present, sometimes present in the birth. Due to this, in the adult age those affected usually present short stature, in addition to being generally dependent on wheelchairs for the rest of their lives, without treatment. Patients often present with fractures soon after birth and in the adult period. Dentinogenesis imperfecta is very common, mainly in the first dentition, such as progressive hearing loss with age. The most variable group clinically, In OI type IV, the effect goes from mild to severe. Usually dentinogenesis imperfecta, not so much the hearing loss; The height is relatively low according to the degree of skeletal deformity, sclera is usually normal, and most of the patients can wander. OI type V has moderately deforming, without blue sclera or dentinogenesis imperfecta. It is characterized by hypertrophic calluses at fracture sites and the mineralization of interosseous membranes. The molecular cause is unknown but heredity appears to be autosomal dominant. OI type VI goes from moderate to severe deforming, without blue sclera or

Fibrodysplasia ossificans progressiva (FOP) is defined as a rare genetic disorder that causes soft tissues to transform permanently into bone. These bones grow abnormally in the muscles, tendons, ligaments and other connective tissues, forming bridges of extra bone across the joints. As a result of the abnormal bone growth, movement in those areas affected by FOP is greatly limited and sometimes impossible. The condition affects many areas of the body, commonly the neck, spine, chest, shoulders, elbows, wrists, hips, knees, ankles and jaw. Similarly to Marfan Syndrome, FOP is an autosomal dominant condition, meaning that a person needs only to get the gene for FOP from one parent to inherit the disease. However, in a lot of cases, FOP occurs as a mutation and then has a 50 percent chance of passing it on to his

Genetic disorders come in various forms. Some can be caused by mutations of the genes or chromosomes while others can be caused by a process called nondisjunction. Nondisjunction occurs when chromosomes during meiosis do not separate correctly and the daughter cells receive too much or too little genetic information. Klinefelter's is caused by nondisjunction which results in an extra X chromosome being present in a male.

Tristan Jones is a 3 year, 0-month boy referred to occupational therapy by his family and physician for major developmental delays. He was born with spina bifida, Chiari malformation, and hydrocephalus. His past medical history includes the implantation of a gastric feeding tube via Nissen fundoplication, a back repair, placement of a ventriculoperitoneal shunt, removal of a large cyst on his spinal column, titanium rods in his skull, suboccipital craniectomy, C1 – C5 laminectomy, occipital-cervical fusion, and most recently a corrective eye surgery for strabismus. He currently wears ankle-foot orthotics and uses a posterior walker for balance and gait. He is prescribed oxybutynin for urinary incontinence and senexon as a stool softener.

Crouzon syndrome is an autosomal dominant genetic disorder and is the most common craniosynostosis syndrome with an incidence of 16.5/1,000,000, representing 4.8% of craniosynostosis cases, and a prevalence of 1/60,000 in the U.S. Crouzon syndrome is caused by an activating mutation of the FGFR2 gene, an important factor in the conversion of the fibrous joint areas between sutures to bone. Specifically, the missense mutation occurs within exons IIIa and exon IIIc of the extracellular immunoglobulin domain, IgIII, in 95% of Crouzon patients. Generally, cysteine residues are replaced, preventing critical disulfide bond formation and ultimately cause spatiotemporal malformations. There are at least 32 documented unique mutations, 30-60% of which are sporadic, spontaneous mutations.

Marfans Syndrome is a disease that results from a change of a person's DNA that can be classified as a genetic disorder. The change can be every minute, such as a single mutation in a particular gene or complex also the addition or removal of a complete chromosome. Marfan syndrome is a hereditary disorder of connective tissue, resulting in abnormally long and thin digits and also frequently in optical and cardiovascular( Mayoclinic.org).

If Type C symptoms are present before the age of 1 it is not likely that the child will live to be five, if symptoms arise during the school age it is possible that the child lives into their late teens, and in some cases into their twenties. Type D is a variant of Type C, and is caused by a mutation in the NPC2 gene, creating, an abnormality in the interaction between cholesterol and brain cells. Type C is often noticed affecting Puerto Ricans, while Type D is frequently observed to affect French Canadians. Type II is most commonly diagnosed with a skin biopsy, in which skin cells would be observed while in the process of moving and storing cholesterol. In Addition, other tests that may be performed are: bone marrow aspiration, a liver biopsy, slit-lamp eye exam, and sphingomyelinase assays. Miglustat has been given as treatment for Type C patients to decelerate the nervous system symptoms, but there is no treatment yet for Type D. Due to the mutations in DNA of Type C it is probable that a fetus could be diagnosed while in the womb in specialized centers. Since both parents are carriers of this gene mutation, there is a 25% chance their child will have this disease, and a 50% chance the