Sotos Syndrome: Cerebral Gigantism

Split-brain syndrome, also referred as callosal disconnection syndrome will be a condition that is distinguish by a bunch of neurological abnormalities that emerge from either a partial or a complete lesioning or severing the corpus callosum, which is basically the cluster of nerves that connect the left and right hemispheres of the brain.

English Bulldogs will not bark usually like some other varieties of dogs that bark for distraction. Nevertheless, it doesn’t mean that they are necessarily quiet all the time. Instead, they often make snorting or snoring and wheezing sounds frequently, especially while they’re asleep. That is again because of their flat and short face characteristics.

Fragile X syndrome (FXS), often referred to as Martin-Bell syndrome, is an inherited genetic condition, associated with intellectual and emotional disabilities ranging from learning problems to mental retardation, and mood instability to autism, especially in boys. In addition to intellectual disability, there are distinguishing physical features as well, including elongated face, protruding ears and low muscle tone

An estimated 4 million dogs in the US are at high risk of suffering from brachycephalic syndrome (Jacot). Dogs with this disease are, at best, noisy breathers, snort when excited, and snore. At worst, their airway noise is significantly more pronounced, they tire easily, and may collapse or faint during and after the simple exercises, like walking around the block. These animals cough, gag, retch, and vomit, which may worsen in hot or humid weather.

Emanuel Syndrome is a congenital chromosomal disorder that can disrupt the development of multiple parts of the entire body. Though numbers are growing, in 2012, over 200 causes of Emanuel Syndrome have been reported in the United States (Zaki, Mohamed, Kamel, El-Gerzway & El-Ruby, 2012). The numbers of those diagnosed with this disorder are low due to the low incidence of this population, but also because of how new this disorder is. In 2004, Emanuel Syndrome officially got its name (Chromosome 22 Central, 2016). Before this time, individuals who had symptoms of this disorder were diagnosed with varying names such as, Cat Eye Syndrome, 22 Syndrome, or 22q11.2 Deletion Syndrome. In 2004, a support parent group for children with these

Neurological manifestations of CVS do not significantly differ in between ischemic or hemorrhagic stroke. Due to the destruction of neural tissue, both types of stroke causes the basis for neurological manifestation (Lewis, et al. 2014).

Bret, P., J. Guyotat, and J. Chazal. "Is normal pressure hydrocephalus a valid concept in 2002? A reappraisal in five questions and proposal for a new designation of the syndrome as 'chronic hydrocephalus'. (Review)." Journal of Neurology, Neurosurgery and Psychiatry 73.1 (2002): 9+. Psychology Collection. Web. 17 Oct. 2016. Received from http://go.galegroup.com/ps/i.do?p=PPPC&sw=w&u=oakv28633&v=2.1&it=r&id=GALE%7CA89146379&asid=e0a0cf28446ef0ea07727b98ad369e2d

There are a couple or more signs of this.Increased height is the most obvious next to severe acne during adolescence.Normal human 5-6 ft xyy syndrome affected individual 6ft 8in by teen or adulthood.The individual could need special ed,have a lower Iq,behavioral problems are believed to be associated with this,along with speech therapy.The person could need help so in school the person goes to a class where teachers help the student and show the student how to do the work.Their Iq may be lower,intelligence normal range.The child won’t be mental.The child might need counseling.

abnormally shaped head, and long overlapped fingers. There is also bone abnormalities, frequent lung and

How this syndrome is caused, if it is related to inheritance and the diagnosis made by professionals:

Discovered in 1938 by Dr. Henry Turner, Turner’s Syndrome is where a female is born with either a x-chromosome missing, or the chromosome being altered in some way. Signs a girl has this disorder can include: puffy feet and hands at birth, short stature, low growth hormone levels, and a delay in puberty. Turner’s is rare, as it occurs in about one in every 2000 births. I was that one birth. Pediatric Endocrinologist Nancy Wright is the one who diagnosed me with it on October 11, 2014. The day was a fall day, with the crunchy leaves on the sidewalk and the doorway. That day was also a little cold. Not too cold, but not burning hot either. The ride took about an hour from my home state of Georgia, to Dr. Wright’s office in Tallahassee, Florida.

Hemifacial hypertrophy may sometimes be associated with deformities of the skeletal system such as polydactyly, syndactyly, club foot, and cerebral enlargement etc. [6] The multisystem involvement has resulted in etiological heterogeneity and no single theory explains the etiology adequately. [1] Heredity, atypical form of twinning, endocrine dysfunction, and anomalies of vascular/lymphatic system and disturbances of CNS are all implicated in the suggested etiology.

This past year I met a 13 month old baby girl that has an incurable and untreatable condition known as Pontocerebellar Hypoplasia (PCH), and is one of only a handful of documented cases of the disease in the world. Mya defied all odds and not only made it through pregnancy but was also able to celebrate her first birthday. When I first heard of Mya’s story, I couldn't believe this girl’s courage to fight for her live in a daily basis. I couldn't believe the sacrifices her parents made and the burden of knowing that any day could be there last day with their child. I knew I wasn't in a position financially to help them but maybe there was different way I could help them. Her parents helped me make a bucket list of things that Mya might not get

Craniosynostosis is defined as a syndrome in which one or numerous fibrous sutures in the skull prematurely fuse together. In doing so, the normal development of the head is prevented, which leads to deformation in the facial bones. In order to keep up with the expansion of the head, the skull continues to grow until the brain is fully developed. The brain grows at a very rapid pace and normally reaches it potential adult size within the first years. By the age of two, the brain has developed about 80%. The bones located on the skull are meant to be pushed apart to accommodate as the development continues, but unable to do so if the skull is already prematurely fused together leading to distortion. A major gene that has been

Birt-Hogg-Dubé (BHD) syndrome is a rare inherited autosomal dominant disorder caused by germline mutations in the folliculin (FLCN) gene [1–4]. Patients with BHD initially develop fibrofolliculomas, typically as benign facial tumors, and lung cysts; whereby, increasing their risk to develop renal cell carcinoma (RCC) and pneumothorax [1,3,4]. The majority of the BHD patient population contain germline mutations in FLCN exon 11, a hotspot for disease causing mutations. BHD research predicts FLCN mutations to result in a protein truncation of its c-terminal end, thus, suggesting the cause for its loss-of-function [1,2,5]. Due to BHD patients sharing clinical similarities with patients expressing mutations in tumor suppressor, TSC1/2, such as: