Witkop Syndrome Essay

Noonan syndrome is a disorder caused by a genetic mutation that causes various parts of the patient’s body to develop abnormally. The condition occurs when a parent passes on an affected gene to their child that produces constantly active proteins, leading to a disruption in the process of normal cell division and growth. Science currently knows of eight genes in which a mutation can cause the disorder. In some cases, there is no family history and the mutation is spontaneous.

The chromosomal abnormalities include turner's disease, laron dwarfism, noonan syndrome, sinotina wiley syndrome, russell xifushi, mutation / deletion of the short stature homeobox-containing gene, and skeletal dysplasia.

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

Duane’s Syndrome is a rare genetic disorder. A Genetic disorder is usually a irregularity in the genes or in the chromosome, these irregularities can be anything from not fully developed, not being there at all, or even having an extra unneeded set. These When someone thinks of a genetic disorder they may think of the very well known disorder of Down's Syndrome, but what people may not know about is the rare disorder called Duane’s syndrome. This syndrome is eye movement limitation syndrome that is usually involved with restricting the eye(s) from moving to the left or right. Moving the eye towards the nose could result in the eye restricting, and/or the eye shooting up or down (Duane syndrome). The simple reason that it is a lesser known

Clinically, the oral findings were “high arched palate in all cases, malocclusion in 6 cases and macrostomia in 4 cases while multiple impactions of the teeth were detected in four patients” (Gataa, 2015, p. 7713). Additionally, only one patient had a cleft palate. From a radiographic perspective, all patients had zygomatic hypoplasia and seven patients had maxillary sinus hypoplasia. Many patients also had micrognathia and short ramus of the mandible. As only two patients had family history of TCS, six patients had TCS due to a new mutation. These results exemplify the notion that TCS patients are all affected differently, and with varying types and degrees of deformities, due to the fact that most cases arise from a new mutation.

The specific metabolic disorder that I picked for this discussion is Krabbe Disease or globoid cell leukodystrophy. The disease destroys the protective coating of nerve cells in the brain and throughout the body causing the nerve cells to stop responding or react unpredictably. The disease is caused by a person receiving two copies of a mutated gene that results in severely curtailed production of an enzyme called galactocerebrosidase (GALC) (Krabbe disease, n.d.). This enzyme is responsible for breaking down certain substances in a cell's recycling center. Unfortunately, in Krabbe disease, not enough GALC was produced so the cells begin accumulating fats called galactolipids which normally are responsible for maintaining the protective coating

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).

Hyperkalemic Periodic Paralysis Disease (HYPP) is a muscular disorder found prominently in horses that occurs due to an inherited genetic mutation [1]. Specifically, a point mutation in the sodium channel gene, found in the muscle of affected horses, is passed on to offspring [1]. Sodium channels found in the muscle cell membrane primarily control muscle fiber contraction [1]. According to research summarized by UC Davis, when this defective sodium channel gene is present, the channels “leak” due to fluctuation of blood potassium levels, causing the muscle to depolarize and to contract involuntarily [4]. These fluctuating potassium levels may result from a period of fasting, followed by intake of high potassium feed, such as alfalfa [1]. Ultimately, the depolarization causes the muscles to lose their effectiveness, and myopathy eventually develops [4]. All horses positive for the HYPP gene mutation are affected for their entire lives [2].

Wilms’ Tumor is a rapidly growing malignant tumor found in the kidney, that is typically diagnosed between ages two and five. It is a disease that develops only in very young children. It is found in one in ten thousand children. In this report, topics such as the disease pathophysiology, signs and symptoms, diagnosis, treatment available, and any prevention possible, will be covered.

Prader-Willi Syndrome, named after the doctors who described it in 1956, is a rare genetic mutation involving missing genes on chromosome 15. The syndrome has two distinct stages and affects the growth and development in patients diagnosed with the disorder. The most major symptom of this disorder is the irregular appetite causing severe weight gain. Prader-Willi syndrome is the most common genetic cause of life-threatening childhood obesity and affects a patient for their entire life span. The syndrome occurs in all races and equally between both males and females however it is not inherited in 99% of cases.

Ectodermal dysplasia is not a single disorder, but a group of syndromes all deriving from abnormalities of the ectodermal structures.More than 150 different syndromes have been identified.Despite some of the syndromes having different genetic causes the symptoms are sometimes very similar. Diagnosis is usually by clinical observation often with the assistance of family medical histories so that it can be determined whether transmission is autosomal dominant or recessive.Worldwide around 7,000 people have been diagnosed with an ectodermal dysplasia condition. Some ED conditions are only present in single family units and derive from very recent mutations. Ectodermal dysplasias can occur in any race but are common in caucasians than any other group and especially in fair caucasians.Ectodermal dysplasias are described as "heritable conditions in which there are abnormalities of two or more ectodermal structures such as the hair, teeth, nails, sweat glands, salivary glands, cranial-facial structure, digits and other parts of the body.

Within the couple of hours of my niece Janelle being born, doctors were concerned how little she was and her slow mobility. Unaware of her condition in Brownsville, she was sent to Driscoll Hospital in Corpus Christie within a couple of weeks. While being in the care at the hospital, medical doctors diagnosed Janelle with Prader-Willi Syndrome. As you can imagine, so many questions and thoughts went through her parent’s minds. To start, what is Prader-Willi Syndrome (PWS)? According to Genetic Home Reference, PWS is a complex genetic condition that affects many parts of the body, such as muscle tone, insatiable appetite, intellectual impairment, and learning disabilities. Which Janelle experiences these abnormalities and we have to take precautionary actions on a daily basis. It is a rare disorder present at birth and we can do nothing to prevent this and

Type II syndactyly or synpolydactyly(SPD) is a semi dominant inherited limb malformation that involves a fusion of digits. It is caused by mutations in HOXD13 on chromosome 2 due to polyalanine repeat expansions. Polyalanine repeats in SPD are mitotically and meiotically stable, causing polymorphisms to be rare, unlike other nucleotide repeat expansions such as Friedreich’s ataxia. HOXD13 is a member of the HOX family, a family of transcription factors that are proteins which contain homeodomain that are important for controlling cell fate along the limb axes and body. HOXD13 is a part of the HOXD gene cluster and crucial for limb development, particularly during the early and late stages of limb development. The stage occurs during the creation of the limb buds at week 4, during this stage the limbs have AP polarity through the expression of sonic hedgehog(shh) signaling from the zone of polarizing

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.

These generations are classified as clinical, genetic, and epigenetic2,4,5. Throughout the clinical generation, lynch syndrome was described on the basis of scientific features and family history2,4,5. In the genetic generation, the development of identification for the DNA mismatch repair genes starting with Msh22. In this generation, LS was said to be cause by autosomal dominant mutations1-9 within the mismatch repair genes of Mlh1, Msh2, Msh6, and Pms2. Around 3,000 genetic differences within these four genes have been identified2. The final generation referred to stable modification in the gene expression that changes in a primary DNA