Joubert Syndrome Essay

Anderson Quillan Syndrome (AMS) is a rare disease with a prevalence rate of 300/100,000 as determined by a recent ecological study. There is speculation that AMS is a consequence of certain exposures, namely increased tea or chocolate consumption and smoking. There is a possible genetic link, but not all AMS patients exhibit this genetic risk. A case-control study (CCS) is proposed in which AMS cases are compared to two control groups. Control group C1 are living genetically related family members of AMS patients and control group C2 is a more diverse cohort of non-AMS subjects without known family history of AMS. The primary goal is to determine whether there is an association between the named exposures and AMS. The secondary goal is to determine whether the presence of a known family history of AMS is a confounder.

Babies with dup15q syndrome often have poor muscle tone, known as hypotonia. They may appear "floppy" and have difficulty sucking and feeding. Some parents report that their baby with dup15q syndrome has an unusual, weak cry. Motor milestones such as rolling over, sitting up, and walking are significantly delayed, although most children achieve independent walking after two to three years (younger in children with an interstitial duplication).

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

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

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

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.

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

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.

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.

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.

                 Rett syndrome, including the age of onset and the severity of symptoms, varies from child to child. Before the symptoms begin, however, the child generally appears to grow and develop normally, although there are often subtle abnormalities even in early infancy, such as loss of muscle tone (hypotonia), difficulty feeding, and jerkiness in limb movements. Then, gradually, mental and physical symptoms appear. As the syndrome progresses, the child loses purposeful use of her hands and the ability to speak (Rett Syndrome, 2010). Other early symptoms may include problems crawling or walking and diminished eye contact (Rett Syndrome, 2010). The onset of a period of regression is sometimes sudden.  Apraxia — the inability to perform motor functions — is perhaps the most severely disabling feature of Rett syndrome, interfering with every body movement, including eye gaze

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

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

The XXY syndrome, most commonly known as Klinefelter syndrome (KS), only affects males of all ages. This syndrome occurs when there is a random genetic error after conception and is not curable, however treatment can help.All females have XX chromosome and all males have XY chromosomes. Unlike the normal XY type that all males have, males affected have an additional X chromosome which results into many symptoms such as impaired spermatogenesis, low testosterone, and male hypogonadism. Since Klinefelter syndrome is related to the sex chromosomes of males, it is a sex link trait.