Spondyloepiphyseal Dysplasia Essay

Clubfoot is a common congenital deformity of one or both feet. Clubfoot can sometimes be identified

I walk into the cold, white hospital, my hands are sweating and my knees are shaking. Even though I have done this every six months since I was twelve years old, it never gets easier. I find a seat in the corner of the waiting room, embarrassed by the large, plastic, butterfly printed scoliosis brace I hold tightly against my side. The door opens, a nurse dressed in plain navy blue scrubs calls out “Emma for Dr. Meyers”. She leads my mom and me down a long hallway, and into a small, brightly lit room. The curse that is scoliosis is hereditary, which means my mom has it, and each of my sisters has been touched by this cruel disease that bends the spine as well. Scoliosis is a curvature of the spine that occurs during the growth period just before and through puberty.

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.

Achondroplasia (ACH) is the most common form of short-limb dwarfism occuring in 1 in 15,000 to 28,000 births and appears to be slightly more prevalent in females, but indiscriminent toward race (1-3). Evidence has been found in Egypt for cases of ACH dating back as far as 4500 B.C. (4). In simplest terms, ACH is a disease where the dwarfing of bones formed in the cartilage occurs (5). There are many features that accompany this disease including rhizomelic (proximal) shortening of the extremities, megalencephaly (enlarged brain), short stature, trident hand, and frontal bossing (prominent forehead) (1, 3, 4, 6-8). Expression of this gene at high levels is primarily found in cells of the nervous system and the cartilage rudiments and

Autosomal recessive inheritance is the third type known to cause muscular dystrophy, whereas both parents are carriers of the defective gene. For this reason the offspring have a 25% chance of being affected with both malformed genes, resulting in them being affected. The chance increases with cousin marriages.

There are three different types of musculoskeletal disorders that effect the spinal column: Lordosis, Kyphosis, and Scoliosis. Scoliosis effects the largest amount of people and also effects the widest range of ages. There are three different types of scoliosis and they are categorized by the age at which the deformity developed. Infantile scoliosis develops from birth to 4 years old, juvenile scoliosis develops from 4 to 9 years old, and adolescent scoliosis develops from 10 to 18 years. Scoliosis is most commonly developed in the adolescent stage, it compromises approximately 80 percent of all scoliosis cases (Baaj, 2017). Any

Fibrodysplasia ossificans progressiva also known as FOP is a one of the rarest, most disabling genetic bone conditions known to medicine. FOP causes muscles, tendons, ligaments, and other connective tissues to turn in to bone. Movement becomes limited in the affected areas of the body. People with FOP typically have malformed toes at birth, meaning the big toe is typically shorter than normal and abnormally turned outward in a position called a valgus deviation. Symptoms of FOP start to show up in early childhood. Most people with FOP develop painful tumor-like swellings also known as fibrous nodules. The fibrous nodules are visible on the neck, shoulders, and back.

In addition, there is a risk of Arthritis if the deformity is left untreated for a given reason, but that is rarely the case. Not only are there physical effects but emotional effects. The child may experience a lack of self esteem especially during adolescence which could end in frustration and maybe depression. Walking adjustments such as casts or special shoes have a positive and a negative effect. Large sores or calluses have a tendency to develop with the abnormal walking pattern. In result this would give the child or adult an awkward walk (Mayo Clinic). Types of clubfoot very between three categories: idiopathic, positional, and syndrome. Idiopathic clubfoot can very from a vast majority of cases but most of which are relatively unknown. The child’s foot or feet affected by idiopathic clubfoot are rigid or stiff hence making them harder to fix and manipulate. Secondly there comes Positional clubfoot, which is caused by the baby's prenatal position within the womb. Positional is easier to manipulate and can be fixed by hand. Syndrome clubfoot, is part of a larger syndrome and is especially difficult to treat. Even with treatment

Fibrodysplasia Ossificans Progressiva is obtained by a mutation on the ACVR1 gene which occurs on chromosome 2. It is autosomal dominant disorder which means it only takes one parent to pass the trait on. In most cases it’s a random occurrence due to mutations during the development of the sperm, egg, or embryo. Another reason it

Talking and eating may become difficult as the mouth becomes affected. As time goes on, patients with FOP may become malnourished because of the inability to eat. They also develop breathing difficulties as a result of extra bone formation around the rib cage that restricts lungs from expanding when exhaling. Symptoms of FOP are; movement becomes extremely restricted as bone grows into joints, and the spine can become deformed or fused together. Due to limited mobility balance and coordination problems can occur and can lead to injury due to falling. A minor injury can cause more inflammation and bone growth .

Several things cause this medical condition. Some kids are born with the problem. When it occurs in adults, it gradually develops over time. It might affect you after your leg or foot has been in a cast or after you've had an injury.

Scoliosis is a disease that affects the spine. There are many people that have spine problems, but with scoliosis a person will have a curved spine. Studies show that it is more common to diagnose someone in their younger years. Scoliosis usually occurs in the thoracic area and the lumbar region. Doctors will look at specific criteria to diagnose a patient and move onto possible treatments.

Many of them have a genetic aspect, so when my sisters and I had children we had to visit a genetic specialist. Klippel-Feil Syndrome is a rare disorder, first reported in 1912 by Maurice Klippel and Andre Feil (The Facts, n.d.). It primarily presents as fusion between at least two bones of the cervical spine, the part of the spine in the neck. Symptoms are typically a shortened neck, limited mobility of the head and neck, and lower hairline on the posterior side. However, there are different classes of the disorder and not all of these are present in each class.

There are numerous factors that contribute to the development of this horrible disease, but the most important factor is vitamin D deficiency. When the minerals in osteoid crystallize, they require adequate concentration of calcium and phosphate. When the concentration is not at the correct level, ossification does not proceed normally (Huether & McCance, 2008). Vitamin D regulates the absorption of calcium from the intestine. When there is a lack of vitamin D, the concentration of calcium begins to fall (Huether & McCance, 2008). The body begins to regulate this calcium drop by increases the amount of PTH synthesis and secretion (Huether & McCance, 2008). An increase of PTH causes a clearance of phosphate and without the correct levels of phosphate mineralization of the bones cannot proceed in the correct manor (Huether & McCance, 2008). The abnormality of bone growth can occur in spongy and compact bone (Mayo

Scoliosis is a complex deformity or curvature of the spine and entire torso and has been recognized clinically for centuries (Asher, Marc A.). “For a few of the patients an underlying cause can be determined, including congenital changes, secondary changes related to neuropathic or myopathic conditions, or later in life from degenerative spondylosis. However, the cause of most scoliosis is not known and since about 1922 such patients have been diagnosed as having idiopathic scoliosis (Asher, Marc A.).”