After the most meticulous testing and review I regret to inform you that your future child will be born with the genetic disorder known as Ichthyosis Vulgaris. The disorder is an inherited skin condition that prevents the body from naturally shedding its dead skin cells. Eventually as time passes those dead skin cells accumulate to create scale like patches on the surface of the skin. The condition is commonly referred to as “fish scale disease” due to the patches appearing similar to that of a fish’s scales.
There are several ways that a disorder can be passed down through families and Ichthyosis Vulgaris follows the inheritance pattern of autosomal dominant, which means the child can acquire the disease by receiving the abnormal gene from at least one parent. I would like to request to view both your families genetic disorder history to further the results although it is possible this is a new mutation in the child and the ancestors were unaffected carriers. Without an inheritance pattern it would be difficult to determine which specific gene or chromosome was mutated so it would quite beneficial to receive the information as quick as possible.
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The condition may be present at birth or in the very early years of the child’s life. Besides the obvious polygon shaped scaly patches on the skin(gray, white, brown) other notable and identifiable symptoms include itchy, dry, or thick skin. However, Mr.Anders and Mrs.Anders, I am not trying to send you into a panicked alarm as there is much to be done for the child in the future. Ichthyosis Vulgaris does not affect life expectancy in any manner and although there is no cure for the condition certain treatment can help manage the
Barone, Eugene J., Judson C. Jones, and Joann E. Schaefer. "Hidradenitis Suppurativa." Skin Disorders. Philadelphia: Lippincott Williams & Wilkins, 2000. 21-25. Print.
ACHONDROPLASIA is known as being undersized, or less than 50in. in height. Having short limbs, a normal sized trunk, large head with a depressed nasal bridge and small face. This is a result of a disease in the thyroid gland. It can also be caused by Down syndrome or absorption, a cartilaginous tissue during the fetal stage. Hypochondroplasia, a mild form of dwarfism. Spinal tuberculosis and the deficiency of the pituitary gland secretions. Treatment with thyroxin or thyroid extract early in childhood results in normal growth and development. Somatrophin, also known as the human growth hormone is secreted by the anterior pituitary. Respiratory problems start to occur in infants. Symptoms of problems include snoring and sleeping with neck in a hyperextended condition. The limbs have rhizometic shortening. The legs are straight in infantry but when a child. He begins walking they develop a knock-knee position. When the child continues to walk legs begin to have a bowed-leg look. Occasionally, these curvatures are fixed. As the child continues to walk the kyphosis disappears and the back assumes a lordotic posture. If a delay in child’s walking occurs, the spine should be monitored closely for signs of gibbous formation. In infancy, hypercephalus can occur. Infants head circumference should be monitored close . Monthly checks of head circumference must be monitored. Radiologic studies are indicated if head circumference raises to disproportionately, or if symptoms of hydrocephalus. Child’s pediatrician should have a copy of head circumference curves for children with achondroplasia. Radiologic procedures for dwarfism include head ultrasound, C-T scan, or MRI of the head. If intervention is necessary, a ventriculoperitoneal shunt is placed relieving the pressure. Infants should also be monitored for foramen magnum compression. It is the opening at the base of the skull in which the brain stem and cervical spinal cord exit. When you have achondroplasia the foramen magnum is compressing the brain stem and spinal cord. Symptoms of narrowing include apnea the cessation of breathing and cervical myleopathy. C-T scans and MRI scans are done to examine the size of the infectious foramen magnum. A neurosurgical procedure called a foramen magnum decompression is executed to alarge foramen and alleviate further symptoms. Adolescents are at risk of getting lumbosacral spinal stenosis. The lumber spinal cord or nerve roots become compressed producing nerosurgical symptoms. Initial symptoms including weakness, tingling, and pain of the legs. Pain usually alleviated by assuming a squatting position.
Lupus is known as “the cruel mystery” in the world of disease/medicine. 1.5 million Americans are currently diagnosed with Lupus, with the number possibly being a lot higher since it is one of the most difficult diseases to diagnose in the WORLD (5 Million some form of Lupus)
...s exist as an inherited disease in some families. The majority of case studies show that the patients affected have no family history of the disease.
Birth Defect: Achondroplasia Sarah Smyth A genetic disease is a mutation caused by the absence of a gene or by products of a defective gene. ("Genetic Disease") ("What Are Genetic Disorders?") I chose to research Achondroplasia, because I thought that it was interesting. I’ve never really heard of this disease before, and I also wanted to do something different than the other kids.
This genetic disorder is not specific to a certain age, ethnic group, or gender; theref...
Imagine waking up one morning and having blisters all over your body and every one was the worst itch you’ve ever had. That’s what having chickenpox is like. Before there was a vaccine, chickenpox caused about 4 million people to get sick, more than 10,500 hospitalizations, and about 100 to 150 deaths each
If I could have everyone's attention. Good-morning ladies and gentlemen. For those of you who don't know me my name is Jasmine Davenport. Today I’d like to discuss traumatic brain injury also referred to as TBI. I chose this topic because traumatic brain injury is a serious and complex injury with a broad spectrum of symptoms and disabilities. Traumatic brain injury effects people of all ages and is a major cause of death and disability worldwide. A traumatic brain injury can be caused by a blow or jolt to the head that disrupts normal functions of the brain Also, traumatic brain injury can cause physical, cognitive, social, emotional, and behavioral affects.
St. Jude Children’s Research Hospital is a non-profit organization that has three pillars that they strive to achieve every day, as well as give everyone the opportunity to help out these sick children and their families.
Another condition associated with the integumentary system is impetigo. This skin condition is mostly seen in children. This condition of the skin is very easy to diagnose and is usually done with the doctor just looking at the patients affected area. The doctor may take a piece of the sore and send it to a lab to get a clearer diagnosis of impetigo.. impetigo ia contagious and can be spread by sharing towels and close contact. It also can be spread by scratching. The symptoms of impetigo are small red bumps around the mouth and nose area. Blisters and crusty sores are also symptoms. The treatment for impetigo is antibiotics. In a mild case of impetigo antibiotic ointment or cream is prescribed. In severe cases the doctor prescribes antibiotic pills to the patient.
I became inspired to become a speech-language pathologist when I first watched the film, Paulie. This film depicted a small girl, named Marie that had a speech impediment, which caused her to stutter. In order to improve Marie’s speech her mother would pronounce certain sounds and practice daily with her. While watching this film I began to realize that there is a number of individuals in our population that have different speech impairments. As I noticed how the character of Marie struggled with her speech impairment I sought to research the different treatments for individuals similar to Marie, and came across speech therapy and speech-language pathologists. I have always been fascinated by language and how it is essential in communication. I view speech-language pathologists as having a major role in helping
Facioscapulohumeral: affects boys and girls. It begins in their early teens or early adulthood. This form affects the face, shoulders, and legs....
This rare genetic disorder has multiple alternative names. The shortest one is referred to as CFC syndrome, but the other two are just as long as the original term for the disorder. They are known as Cardio-facial-cutaneous syndrome and Facio-cardio-cutaneous syndrome. It was first construed in the year of 1986 by J.F. Reynolds and associates at two places; the Shodair Children’s Hospital in Helena, Montana and the University of Utah. Its explanation was concluded from the examination of eight unrelated patients who all shared many of the same characteristics. They all had psychological disabilities and analogous aberrations in their appearance of their face, hair, skin, nails, and heart.
Hello my name is Nick and I am giving my speech on Alzheimer’s Disease. I was thinking of what I could do for a speech. Then I thought I wanted to inform people on something that little know about. Then it hit me. Alzheimer’s Disease it has affected my life so much and I know so much about it. So I am going to tell you how it has affected my life in more ways than one. Before I start I want you to imagine something. Look around you know everyone right? All these faces you see practically see everyday take all that you know about them and forget it. Can you do it? I can’t. So try to imagine now that it could happen to you years down the road and the disease gets so bad you cant remember your kids, your mother, or even your family. You probably are thinking right now, it will not happen to me. Well that is what my grandfather said about 6 years ago and now he cant even remember my name.
Millions of people suffer from asthma.. Many of them have different things that can trigger an attack. (Thesis)