Syndromes

Marfan’s syndrome is a rare hereditary disorder of the body’s connective tissue. The phenotypic traits include being tall, abnormally long stretched limbs and in the most severe cases the aorta can be prone to rupture and retinal detachment can occur [1]. Seventy five percent of cases for this multisystem disorder are genetic and inherited in an autosomal dominant fashion (a child can inherit it from just one parent): 25% are sporadic where neither parent has the syndrome [2]. Its prevalence is 1/5000

Klinefelter Syndrome. When described more than 40 years ago, Klinefelter Syndrome was thought to be an endocrine disorder. A second testicular postulated hormone that never has been isolated. Over the years the syndrome has been found to be a chromosomal Disorder. In which there is a extra X chromosome in 80% in the patients. The disorder occurs in every 500 to 1000 male births and the best way to diagnose it is by a buccal smear. (http://www.webmd.com/men/tc/klinefelter-syndrome-topic-overview#1)

was diagnosed with Rett syndrome? First, you have to know what it is. Rett syndrome is a genetic disease that causes the inability to use muscles used for movement and affects their ability to speak. Females are the only ones that can contract the disease. Every nine minutes, one girl is born with Rett syndrome. Although Rett disease is a well known disease, it wasn’t always like that. A neurodevelopmental pediatrician, Andreas Rett, was the first to recognize the syndrome and promoting awareness

disorder caused by the presence of all or part of a third copy of chromosome twenty-one. It is associated with physical growth delays, characteristic, facial features, and intellectual disability. Down syndrome is one of the most common chromosomes and abnormalities in humans. Those with Down syndrome nearly always have physical and intellectual disabilities. As adults their mental abilities are typically similar to an eight or nine year old. They typically have poor immune function and generally reach

genetic or chromosomal abnormalities. The Turner Syndrome (known as Ullrich-Turner Syndrome in Germany) is a congenital disease. A German doctor named Ullrich published his article in 1930. American doctor Henry Turner recognized a pattern of short stature and incomplete sexual maturation in otherwise normal females. He published a comprehensive medical description of the syndrome. It was not until 1959, that it became clear the syndrome was due

Down syndrome is a genetic disorder in which a person is born with an extra copy of chromosome 21. There are three genetic variations that cause Down syndrome: Trisomy 21, Mosaic Trisomy 21 or Translocation Trisomy 21. There are many ways in which theses disorders affect the body.  Trisomy 21 occurs when an egg or sperm comes in with an extra copy of chromosome 21, then, once an embryo is formed and starts to develop, the chromosome is replicated in every single cell of the embryo. Trisomy 21 is

Due to the nature of the condition, individuals with Down syndrome face a bountiful array of difficulties with language and communication. Down syndrome occurs due to an extra copy of the twenty-first chromosome causing intellectual and developmental delays as well as abnormal physical characteristics. With the highly complex nature of human speech, these physical characteristics of individuals with Down syndrome cause many challenges in accomplishing clear and audible communication. The following

William Syndrome What is Williams Syndrome? The William syndrome is also known as WS, WMS and Williams-Beuren Syndrome (WBS). WS is an uncommon genetic disorder that is present at birth which can also affect females and males equally of any culture. The characteristic facial appearance and loving personality is what makes this rare syndrome to be unique. Most affected individuals with WS can have from mild to moderate retardation.According to the Williams Syndrome Association 20,000 people are affected

Tetra-Amelia syndrome is a very rare disorder characterized by the absence of all four limbs. (“Tetra” is the Greek word for “four”, and “Amelia” refers to the failure of an arm or leg to develop before birth.) This syndrome can also cause severe malformations of other parts of the body, including the face and head, heart, nervous system, and skeleton. The lungs are underdeveloped in many cases, which makes breathing difficult or impossible. Because children with tetra-amelia syndrome have such serious

Joubert Syndrome: genetic factors and associated cognitive, motor and organ disabilities. Joubert Syndrome (JS) is a rare genetic disorder which involves mutations in both the mother’s and father’s genes. Both parents must be carriers of this gene in order to pass it on to their children and there is a twenty five percent chance that their child will be born with Joubert Syndrome (Welcome | Joubert Syndrome & Related Disorders Foundation, 2015). Characteristics of this very rare syndrome include