Waardenburg syndrome

Effect Causes and Effects of Waardenburg Syndrome Waardenburg syndrome is a group of genetic conditions that are inherited and are congenital or evident from birth that can result in hearing loss and changes in coloration or pigmentation in the hair, skin, and eyes. It was named after Johannes Waardenburg, who was the first to notice that people with two different colored eyes frequently had hearing problems. Waardenburg syndrome is classified into 6 different syndromes depending on the symptoms of

Waardenburg Syndrome is a group of genetic conditions that can lead to hearing loss and changes in the color of hair, skin, and eyes (Genetics 2013). Cases of Waardenburg Syndrome are not very common. There are different types of symptoms of the syndrome. Waardenburg Syndrome can be inherited either on an autosomal dominant pattern or autosomal recessive pattern (Calendar 2013). The ways of diagnosing Waardenburg Syndrome include certain tests to detect the disorder. While Waardenburg Syndrome cannot

is caused due to a multitude of different sources (“The Prevalence”). Its onset is also extremely variant and could happen either congenitally or at any point later on in a person’s life. One of these such congenital disorders is Waardenburg syndrome. Waardenburg syndrome is a genetic disorder characteristized by four different types of specific disorders that are further differentiated by their physical attributes and genetic causes. It’s estimated that about 1 in 40000 people are diagnosed with

The article is titled “Communication Modality Sampling for a Toddler with Angelman Syndrome” by Jolene Hyppa Martin, Joe Reichle, Adele Dimian, and Mo Chen. The authors explored three modes of communication, vocal, gestural, and graphic, with a young child with Angelman syndrome. The researchers investigated which mode of communication would be the most effective and efficient for the child. Angelman syndrome can cause cognitive, communication, and physical disabilities. It is a disorder that affects

Epidemiology: Obstructive sleep apnea is becoming more prevalent in adults and children in our society. Obstructive sleep apnea is undiagnosed mostly in women being 92% and 80% in men. The estimated prevalence in women is 2% and in men is 4%. A study was done by the University of Pennsylvania revealing that the prevalence in women was 4% and 9% for men. Another study called The Wisconsin Cohrt study showed that people who are 30 to 60 years old, the prevalence is 9-24% for men and 4-9% for women

Cri-du-Chat (cat’s cry) Syndrome is a rare chromosomal disorder that is caused by the deletion of genetic material on chromosome 5. Due to this, this syndrome has an alternative name, known as 5p-, or 5p minus syndrome. Although this genetic defect is able to be diagnosed, the cause of the deletion on the chromosome is unknown. Almost all cases of the Cri-du-Chat Syndrome are found to have no relation with family members or previous generations. This syndrome is generally not inherited, as the deletion

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

Did you know there are more uses for baby cams than just checking on your baby? Like making adorable video clips of a parent's devoted care of a cranky baby. For several months, Michela could not sleep through the night and woke up crying every two hours. Here is a video of what happened one night during that period in her young life. (Video) In this baby cam video from 2009, Michela's devoted Canadian father Nunzio Raso goes to check on his crying daughter. He first tries to pat her to clam her

Prader-Willi syndrome is a genetic disorder caused by the deletion of part of chromosome 15. This genetic abnormality affects the hypothalamus which influences growth hormones, sex, thirst, and hunger and is contributed to developmental delay. Children with Prader-Willi syndrome will develop hyperphagia. Hyperphagia is a serious eating disorder, and is characterized by extreme overeating to the point where it becomes life-threatening. Hyperphagia is hard to treat and is the main trait of Prader-Willi

Cornelia de Lange Syndrome typically presents with a constellation of distinctive features affecting several different parts of the body. There is a wide degree of variation between individuals with the disorder in the presentation and severity of symptoms; however, the features described below represent a typical presentation. Slow growth during both fetal and post-natal development is a characteristic feature of the disorder. Approximately 90% or more of patients display delayed skeletal maturation