Joubert Syndrome Essay

Source http://www.epilepsy.com/learn/types-epilepsy-syndromes/dravet-syndrome The majority of Dravet mutations are not inherited from either parent, as is the case with Jayden whose parents do not carry the gene that causes Dravet syndrome. It is common for patients with this condition to exhibit cognitive impairment, behavioral disorders, and motor

The main medical issues, in this case, are right arm and leg weakness along with speech and word-finding difficulties.

Johnson Munson syndrome will start within the DNA from the formation of the fetus at birth. There are birth defects that cause the variety of disfiguring parts of the body. There for the limbs may not be of proper size and these could consist of a toe or finger missing. The toes and fingers can also be grown together, arms, and legs may not be fully developed. As of today, there is one known risk factor that has been found within the first year of the child’s

Kim Jong Un’s son, K.J. Jr. shocked the world by being born with the Noonan Syndrome! The Noonan syndrome is a condition that normally involves disabilities such as a heart problem found from the start of birth, short stature, a webbed neck, or chest deformities may be seen as well (. This is extremely depressing because K.J. Jr. amazingly beat the odds of one in 1000-2500 births that will have this type of genetic syndrome (Noonan Syndrome Support Group)! The Noonan syndrome is inherited along with birth and anyone may be born with the syndrome regardless of gender. This disease is often found in Canada, Holland, and the United States (Noonan Syndrome Support Group).

In a women’s 2nd trimester of her pregnancy, she can have a blood test called the “quadruple screen” to determine if her child has spina bifida. The fetus and placenta give off a protein called AHP (maternal alpha-fetoprotein), which will appear in the mother’s bloodstream. If the test shows a higher than average level of AFP (maternal alpha-fetoprotein) then it may indicate that the baby has a spinal opening. Sometimes doctors can diagnose with an ultrasound on the baby in utero, many times the malformation can be seen. However, the baby may not be diagnosed until birth. In this case, the doctor would run an MRI, CT, or X-ray to confirm the status of the

Usually women have two X chromosomes while men have one X chromosome and one Y chromosome. There are some cases where babies do not have any of these arrangements mentioned above (Through the Wormhole video). As people study these kind of cases, they have realized that there might be more than two sexes. For example, I learned that some women can be born with “Swyer syndrome”, which makes them anatomically and physiologically a female but they never achieve female sexual maturity (The Gene: An Intimate History). When their cells were examined, they discovered that they had XY chromosomes in their cells. Basically, they were chromosomally male but anatomically, physiologically, and psychologically female (The Gene: An Intimate History). Goodfellow discovered the SRY gene. This gene was the determinant of maleness but it was flicked off on women with Swyer

Rett Syndrome is a neurodevelopmental disorder often misdiagnosed as autism, cerebral palsy or a developmental disorder. Rett Syndrome affects girls and is characterized by normal early growth and development followed by a slowing of development and loss of hand skills, acquired speech, and slowing of head growth. It affects one in every 10,000 to 15,000 live female births and all races and ethnic groups. Rett Syndrome is not inherited or passed through generations, most cases are considered spontaneous. Most girls will live only to their mid twenties. With recent technology and medicine some girls are able to live up to thirty-five. This disease will leave affected females dependent on caregivers or family members for the entirety of their

The first time my nephew Jackson had a seizure, my family was not sure what happened. He was walking around and suddenly dropped to the floor. Two years later with several weeks spent in the hospital, Jackson was diagnosed with Infantile Spasms, which developed into Lennox Gastaut Syndrome. The problem that I most want to solve is to cure Jackson of his epilepsy.

Stevens – Johnson syndrome (SJS) is a severe immune response-mediated hypersensitivity reaction to particular drugs or infections that causes rashes, sloughing of the skin, and the disruption of mucous membranes. This condition may affect abdomen, back, breasts, feet, gastrointestinal system, genitals, hands, head, immune system, knees, legs, lungs, neck, nose, reproductive system, respiratory system, urinary system and eyes.

Additionally, several of these large heterogeneous diseases are known as being genetic. Gormley (2001) stated that these disorders can have “many neurological deficits that interfere with function, cares, comfort, or positioning” that associate with mobility

Stevens-Johnson syndrome (erythema multiforme) is an acute inflammatory polymorphic disease affecting skin and mucous membranes. All ages may be affected, and the incidence is equal in both sexes. This is a severe disease with a 5%–15% mortality rate. Ocular involvement, which occurs in as many as half of patients, varies from a mild mucopurulent conjunctivitis to severe perforating corneal ulcers. Blindness occasionally occurs in patients with severe late-phase corneal complications, such as ulceration, vascularization, and perforation.

Rett's disorder (also known as Rett's syndrome) is sometimes mistaken for autism when diagnosed in very young children (and is linked to autism, Asperger's disorder, ADHD, and schizophrenia), but it is much less prevalent and has a distinctive onset and course. The condition occurs primarily in girls who, after early normal development, experience slower-than-expected head growth during the first months of life and a loss of purposeful hand motions between ages five and 30 months. Affected children are usually profoundly mentally retarded and exhibit stereotypical repetitive behaviors such as hand wringing or hand washing. Interest in socialization diminishes during the first few years of the disorder but may resume later in life, despite severe

Genetic disorders are a major risk factor neurodevelopmental disorders. An example is the neurodevelopmental disorder called Down’s syndrome which is caused by the presence of extra chromosome 21. It is distinctive from abnormal palm prints and fingerprints, heart defects, and muscle tone which is poor. Mental retardation is also one of the main characteristics.

By dates, she is 33 ½ weeks. Both twins are cephalic with twin A on the left, slightly anterior, and twin B more to the right and superior. Both have good amniotic fluid. The dividing membrane is identified. The BPP scores are 8/8 and the Doppler studies are reassuring. An overview fetal anatomy assessment was performed, though limited by the more advanced gestational age in conjunction with twins. No gross malformations were noted but again a detailed assessment was not possible.

scoliosis, cataracts , scars, overweight, Chrohn diseasChromosome Patterns The normal female has 46 chromosomes, of