Introduction
The growth and development of a prenatal baby is sometimes taken for granted by the parents, but one little change in a chromosome can result in a variety of genetic disorders. Discovered by Dr. Jerome Lejune, Cri-du-Chat Syndrome is the production of a deletion in the short arm of the chromosome number 5. Cri-du-Chat Syndrome has a number of symptoms, but the distinctive feature is the cat-like “mew” that infants produce, which is what the syndrome is named for. This rare genetic disorder affects an estimated 1 in 20,000 to 50,000 live births, is more common in females (a 4:3 ratio), and is seen in all ethnicities. (4& 5 Curriti)
Signs, Symptoms, and Distinctions of Cri-du-Chat Syndrome
Although the syndrome gets it’s name from the distinctive cry affected infants make, Cri-du-Chat syndrome also has many other symptoms that are not as distinctive as the cat-like cry, and occur in other developmental and genetic disorders. These include:
• Low birth weight, caused by feeding problems because of difficulty swallowing and sucking.
• Severe cognitive, speech and motor delays, or slow or incomplete development of motor skills
• Unusual facial features that can change over time, such as: o Small head (microcephaly) o Small jaw (micrognathia) o Downward slant to the eyes
• Partial webbing of the fingers and toes
• Single line in the palm of the hand (simian crease)
• Frequent medical problems such as upper respiratory tract infections, otis media, and severe constipation.
Other features that are associated with Cri-du-Chat syndrome include: growth retardation, a round face with full cheeks, a flat nasal bridge, short fingers, small hands and feet, and various cardiac defects, such as VSD (Ventrical Septal Defect) and AS...
... middle of paper ...
...i du chat syndrome.." Archives of Disease in Childhood. BJM, 7 June 1996. Web. 2 Dec. 2013. .
2.) Howlin, Patricia, Tony Charman, and Mohammad Ghaziuddin. The SAGE handbook of developmental disorders. Los Angeles, Calif.: SAGE, 2011. Print.
3.) Judd, Sandra J.. Genetic disorders sourcebook: basic consumer health information about heritable disorders, including disorders resulting from abnormalities in specific genes .... 4th ed. Detroit, MI: Omnigraphics, 2010. Print.
4.) Mainardi, Paola. "Abstract." National Center for Biotechnology Information. U.S. National Library of Medicine, 5 Sept. 2006. Web. 29 Nov. 2013. .
5.) Mainardi, Paola Cerruti . "Cri du Chat syndrome." Orphanet Journal of Rare Diseases. N.p., 26 July 2006. Web. 2 Dec. 2013. .
MOD. "Tay-Sachs and Sandhoff diseases." Birth Defects. March of Dimes, Dec. 2009. Web. 12 Feb. 2014. .
Cri-du-chat is a rare genetic disorder discovered by Jerome Lejeune in 1963. It is caused by the deletion of genetic material on chromosome five, an autosomal chromosome. The deletion occur on the "p" arm of the chromosome. Scientists do not know the reason why this chromosome deletion occurs.
The disorder that is called Cri du Chat Syndrome has known many names. These include, but are not limited to, CdCS, Crying Cat Syndrome, 5p-, 5p minus, amd 5p Deletion Syndrome. It can also be called Monosomy 5p and Lejeune Syndrome. The people that have this disorder show many symptoms, the most recognizable being an underdeveloped larynx, which results in infants producing a high-pitched cry which often sounds like, of all things, a cat. The French name is taken from this symptom; the term Cri du Chat is French for Cry of the Cat (B).
The symptoms of cri du chat syndrome diverge between people. The unpredictability of the medical symptoms and growing delays may be linked to the magnitude of the deletion of the 5p arm. The scientific symptoms of cri du chat syndrome frequently contain a high-pitched cat-like cry, psychological retardation, late development, characteristic facial structures, small head size (microcephaly), widely-spaced eyes (hypertelorism), low birth weight and weak muscle tone
De grouchy syndrome, de grouchy syndrome is a rare diesis that takes place normally in the 18q cell. 18q is a chromosomal condition that happens when a piece of a long arm witch is described as - (q) is missing from the 18 cell. Some symptoms that occur with de grouchy syndrome are your ears, your mouth shape, and your sexual develop meant. De grouchy can affect more things like having a higher chance of sezers and autistic behavior.
Jerome Lejeune, a geneticist, distinguished Cri Du Chat syndrome in 1963: he also discovered down syndrome. The syndrome, in French, means ‘Cry of the Cat’. This syndrome is caused when the short arm of the 5th chromosome is deleted. Due to this deletion, multiple genes are missing. Therefore, this causes numerous disorders. (Who discovered Cri Du Chat, Explorable.com)
Bratton, R. L., Whiteside, J. W., Hovan, M. J., Engle, R. L., Edwards, F. D. (2008). Diagnosis
The two developmental neurologic disorders I would like to discuss are Sickle-cell anemia and Down syndrome. Sickle- cell anemia was named for the description of the appearance of the red blood cells of those who suffer from the disease. Johnson (2010) describes sickle as a chronic illness resulting from inadequate blood circulation that causes significant pain and ultimately organ failure and death (p. 132.) According to Feldman (2013) “around 1/10th of people of African descent carry genes that produce sickle-cell anemia, and 1/400 actually has the disease.” Symptoms of the disease include chest and abdominal pain, fever, fatigue, jaundice related to hepatic disease, compromised renal function, stroke and sometimes death. In the past many victims of the disease died in infancy, but due to advances in medicine, life expediency has significantly increased. One of the most difficult consequences of this disease is the lifelong management of pain and resulting isolation during times of a sickle-cell crisis. Cognitive, physical and social development are al...
Also, they have small heads and a slope forehead. They usually have major structural problems with the brain and they are usually diagnosed after birth. Regularly, the front of the brain doesn’t divide properly (holoprosencephaly). Which causes changes in the face development. The eyes are close set, or the nose or nostrils are underdeveloped. Cleft lips and cleft palate are common with babies with Patau Syndrome. Eye problems are common, and sometimes they have scalp abnormalities (cutis aplasia) which resemble ulcers. They also may have birthmarks that are purplish-red in color. Many babies with Patau Syndrome Have extra toes or fingers (polydactyly). There are many other possible health issues such
The neurological disorder is generally diagnosed in children aged between six and twelve years, the condition affecting boys three times more often than girls (Hamilton, 2002; Gardner, 2008). Despite the fact that DCD affects roughly 6.4 percent of children, few individuals are familiar with the condition (Hamilton, 2002). In fact, a study by Kirby, Davies, & Bryant (2005) revealed that only 54.3% of teachers and 26.7% of general practitioners could accurately define DCD (p. 124). In response, the condition will be briefly outlined here.
Bellenir, Karen. Genetic Disorder Sourcebook: Basic Information about Heritable Diseases and Disorders Such As Down syndrome, PKU, Hemophilia, and Von Willebrand Disease. Detroit: Omnigraphics, 1996.
Some characteristics of DS are: deep folds at the corners of the eyes, hypotonia, short stature, flexible joints, small oral cavity and heart defects (Taylor, Richards, & Brady, 2005). Most individuals with DS have a moderate intellectual disability, although there is a range of disability, from severe to high functioning (IQ above 70). Since DS is a birth defect and not a disease, there are no treatment options. Improvement can be made through physicians, special education, physical therapy, speech therapy, occupational therapy, and psychol...
The evolution of studying and documenting genetic diseases in the scientific community has been one of exponential growth, this is important because it helps communities
Journal of Intellectual & Developmental Disability, by Dillenburger, K., and Keenan M., published in 2009, summarized Nov 19, 2009