The more common and less detrimental types of Waardenburg syndrome are WS1 and WS2. WS1 most commonly
The more common and less detrimental types of Waardenburg syndrome are WS1 and WS2. WS1 most commonly
They may present with a number of types of congenital heart disease (e.g. atrial septic defect, ventricular septal defect, or patent ductus arteriosus) Children with the syndrome might have a hernia, abnormalities of their urogenital system, malformed kidneys, or undescended testicles if they are male.…
They frequently have mild to moderate short stature during childhood, but their growth usually catches up during puberty. Hand abnormalities are common in this syndrome and include short fingers (brachydactyly), curved pinky fingers (fifth finger clinodactyly), webbing of the skin between some fingers (syndactyly), and a single crease across the palm.…
Recently, there is a strenuous effort to reach a consensus on diagnostic criteria for PMS and to recognize core symptoms of the syndrome O’Brien et al., 2011. These symptoms include psychological, physical, cognitive, and behavioral changes. Physical symptoms include hedach, bloating, diarrhea, fatigue, back ache, pelvic congestion, mastalgia, and gastrointestinal disturbances. Psychological symptoms include irritability, mood swings, nervousness, and depression. Poor concentration and feeling out of control are the primary cognitive changes. Finally, the behavioral changes include social withdrawal, aggressive behaviors, disturbed relationships and increased arguing. Biggs and Demuth, 2011 & Rapkin and Mikacich,…
Progeria, otherwise known as Hutchinson-Gilford syndrome is an extremely rare, generic childhood disorder with reported incidence of about one in a million. Hutchinson has reported the syndrome in 1886 when he found the first patient with Progeria. In 1904 Gilford described a second case of Progeria, thus creating the term to reflect the syndrome 's senile features. There are only about a hundred reported cases since the disorder has been discovered over a century ago. Currently, there are about thirty to forty known cases worldwide of Progeria. Affected children age up to seven times faster, have "plucked bird" appearance, many health problems and their lifespan is about thirteen years. There is neither known cause nor cure for this disease. It is usually first diagnosed based only on appearance and treatment is given for other conditions associated with the aging process rather the disease it self.…
Physical characteristics identify with what type of Waardenburg a person has. For example, wide set eyes are common in type one and hearing impairments occur in twenty percent of type one Waardenburg. Hair discoloration is common in type two and hearing loss occurs in fifty percent of type two Waardenburg. Type three is called Klein-Waardenburg and is similar to type one but includes muscle problems, and type four is called Waardenburg-Shah which is also similar to type one but includes intestinal problems. People may have only some traits of the syndrome and some may have all traits. Rare cases associate Waardenburg Syndrome with other problems like intestinal disorders…
Formally known as Hutchinson - Gilford syndrome, Progeria is a genetic disorder that affects 1 in every 8 million babies born. The disorder is known for its unusual appearance of premature aging in children. Progeria was first discovered when it showed up in a child in 1886 by Dr. Hutchinson. The second case was later discovered by Gilford a year later. In 1889 Badame named the disorder Progeria, derived from a Greek word meaning "old age" (Livneh 1). The suspected cause of Progeria is a mutation in Lamin A/C gene that leads to abnormality in control of the cell division and in the formation and…
There are two forms of Opitz G/BBB syndrome, which are distinguished by their genetic causes and patterns of inheritance. The…
Congenital malformation/anomalies can be defined as a physical defect that is present in a baby from birth. It can involve many different systems of the body including central nervous system, cardiovascular system, respiratory system, musculoskeletal system, gastrointestinal system, genitourinary system and reproductive system. These may include brain malformations, facial abnormalities, skin malformations, congenital heart diseases and bones malformations. These malformations are due to underlying genetic etiologies. The reported malformations included corpus callosum dysplasia for brain, cutaneous dyschromia for skin, ear malformations and brachydactyly for skeletal malformations. Caramaschi E, et al reported malformations and dysmorphism as predictors in which they defined malformation as major organ anomalies including the heart and genitourinary system29. However, they did not define the dysmorphisms.…
Imagine you are a person living with Lynch Syndrome, this means you have an 80% chance of developing numerous kinds of cancer. Lynch syndrome is a genetic disorder caused by a group of mutations that greatly effect a person to an early and aggressive stage of colon cancer. Although this genetic mutations can cause other cancers, colon cancer is most common. The main cause of Lynch syndrome is miss-matched genes. This genetic disorder is passed down from parents on the MLH1 gene on the third chromosome. Mutations can also occur on the MSH2 gene on the second chromosome, the MSH6 gene also on the second chromosome, and lastly, the PMS2 gene on the seventh chromosome. Although there aren't many obvious symptoms, one way to see if you have Lynch…
Noonan syndrome is a genetic disorder that was once known as Turner-like syndrome. It is a mutation of several genes where they develop proteins that are continuously active; which ends up disrupting the control of the cells growth and division resulting in abnormal developments of the body. Noonan syndrome can affect a person's physical appearance in multiple ways, along with their mental state of mind. This syndrome equally affects males and females.…
DiGeorge syndrome is an anomaly that occurs when the 22q11.2 chromosome has been deleted, causing many different symptoms in various parts of the body. Those affected by DiGeorge syndrome often display signs of heart disease and defect at birth, presence of "cleft" palate (opening in the roof of the mouth), learning disorders, autoimmune diseases (such as rheumatoid arthritis), hypocalcaemia (low presence of calcium in blood), speech disabilities, and sometimes growth disorders. This syndrome is not explicitly fatal, but cardiac disorders caused by the DiGeorge syndrome are its greatest cause of mortality. Diseases contracted from severe immunity deficiency can also lead to death. It has…
Fragile X syndrome is more common in males, is caused by a mutation of the FMR1 gene, and occurs when the X chromosome becomes compressed and typically breaks. This results in a physical appearance that often includes macrocephaly, soft skin, a long face, a palate that is high-arched, and ears that are prominent. Neurological outcomes can include moderate to severe mental deficiency, seizures, autistic tendencies, and hyperactivity (OMIM, 2016). Turner Syndrome is related to the HUWE1 gene and is a disorder that occurs in females where an X chromosome is missing or part of one of the X chromosomes is omitted. This syndrome is associated with impaired perception and visual-spatial abilities and short stature. Studies have indicated one or more genes present in the psuedoautosomal region (PAR) appear to be restricted in regards to bone cells and marrow and insufficiency of certain genes on the X chromosome leads to short…
Prader Willi syndrome is a genetic disorder, meaning that someone with Prader Willi syndrome was born with it. Although people with PWS generally have…
Williams Syndrome is caused by a deletion of genes in the Williams-Beuren region of chromosome 7; when deletions occur during the formation of the egg and sperm, it is caused by unequal recombination during meiosis. Recombination normally occurs between pairs of chromosomes during meiosis while they are lined up at the metaphase plate. If the pairs of chromosomes don't line up correctly, or if the chromosome breaks aren't repaired properly, the structure of the chromosome can be altered. Unequal recombination occurs more often than usual at this location on chromosome 7, causing Williams syndrome.…
Many affected people inherit the disorder from a parent but between 30 to 50 percent of new cases occur because of a spontaneous genetic mutation…