Plz....
First to name 5 and have given short definitons gets the 10 points... Achondroplasia is a type of autosomal dominant genetic disorder that is a common cause of dwarfism. People with this condition have short stature, usually reaching a full adult height of around 4 feet or 1.2 meters.The average adult male and female heights are 51.8 and 48.6 inches tall respectively.
Apert Syndrome, virtually synonymous with Acrocephalosyndactyly, is a branchial arch syndrome, resulting from a developmental anomaly. Specifically, this syndrome affects the first branchial (or pharyngeal) arch, which is the precursor of the maxilla and mandible. Since the branchial arches are important developmental features in a growing embryo, disturbances in its development create lasting and widespread effects.
Barth syndrome (BTHS), also known as 3-Methylglutaconic aciduria type II and Cardiomyopathy-neutropenia syndrome is a rare genetic disorder classified by many signs and symptoms, including metabolism distortion, delayed motor skills, stamina deficiency, hypotonia, chronic fatigue, delayed growth, cardiomyopathy, and compromised immune system.
Rett syndrome is a neurodevelopmental disorder that is classified as a pervasive developmental disorder by the DSM-IV. Many [1] argue that this is a mis-classification just as it would be to include such disorders as fragile X syndrome, tuberous sclerosis, or Down syndrome where one can see autistic features.
Porphyrias are a group of inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). They are broadly classified as hepatic porphyrias or erythropoietic porphyrias, based on the site of the overproduction and mainly accumulation of the porphyrins (or their chemical precursors). They manifest with either skin problems or with neurological complications (or occasionally both). HI THERE, I HAVE GIVEN THE ANSWER FOR YOUR ? BUT IT IS NOT SHORT,A LITTLE BIT LONG, U CAN ALTER IT FOR YOUR CONVENIENCE.
Genetic Disorders
Genes are the individual units of DNA, the building blocks of life. When mistakes or mutations occur, they can cause genetic disorders. Hereditary, or germline mutation, can be passed on from generation to generation. Acquired, or somatic mutation, may be caused by environmental stress.
1. achondroplasia:
Achondroplasia is a genetic (inherited) bone disorder that occurs in one in 25,000 live births. Achondroplasia is the most common type of dwarfism, in which the child's arms and legs are short in proportion to body length. Further, the head is often large and the trunk is normal size. The average height of adult males with achondroplasia is 52 inches (or 4 feet, 4 inches). The average height of adult females with achondroplasia is 49 inches (or 4 feet, 1 inch).
2.Cri Du Chat Syndrome:
* Cri Du Chat Syndrome results from the loss or deletion of a significant portion of the genetic material from the short arm of one of the pair of number five chromosomes.
* Cri Du Chat Syndrome is also known as 5P Minus syndrome, Le Jeune's syndrome and Cat's-cry syndrome.
* It is a relatively rare genetic condition with an estimated incidence of between around 1:25,000 to 1:50,000 births. There are more children being diagnosed now that genetic testing is carried out more frequently and is more accurate. In addition, since records of this nature are not kept in most countries, the actual incidence is not known.
3.Cystic fibrosis :
Cystic fibrosis (CF), also called mucoviscidosis, is a hereditary disease that affects the entire body, causing progressive disability and early death. Formerly known as cystic fibrosis of the pancreas, this entity has increasingly been labeled simply 'cystic fibrosis.
Difficulty breathing and insufficient enzyme production in the pancreas are the most common symptoms. Thick mucous production as well as a low immune system results in frequent lung infections, which are treated, though not always cured, by oral and intravenous antibiotics and other medications. A multitude of other symptoms, including sinus infections, poor growth, diarrhea, and potential infertility (mostly in males) result from the effects of CF on other parts of the body. Often, symptoms of CF appear in infancy and childhood; these include meconium ileus, failure to thrive, and recurrent lung infections.
Cystic fibrosis is one of the most common life-shortening, childhood-onset inherited diseases. In the United States, incidence is 1 in 1000.] In Victoria, Australia, incidence is 1 in 3600. In northern Italy, incidence is 1 in 4300] It is most common among Europeans and Ashkenazi Jews; one in twenty-two people of European descent carry one gene for CF, making it the most common genetic disease among them.
4.Diabetes Mellitus (DM)
Diabetes mellitus is a disorder in which blood sugar (glucose) levels are abnormally high because the body does not produce enough insulin.
Insulin, a hormone released from the pancreas, controls the amount of sugar in the blood. When a person eats or drinks, food is broken down into materials, including sugar, that the body needs to function. Sugar is absorbed into the bloodstream and stimulates the pancreas to produce insulin.
. Insulin allows sugar to move from the blood into the cells. Once inside the cells, sugar is converted to energy, which is either used immediately or stored until it is needed.
The levels of sugar in the blood vary normally throughout the day. They rise after a meal and return to normal within about 2 hours after eating. Once the levels of sugar in the blood return to normal, insulin production decreases. The variation in blood sugar levels is usually within a narrow range, about 70 to 110 milligrams per deciliter (mg/dL) of blood. If a person has eaten a large amount of carbohydrates, the levels may increase more. People older than 65 years tend to have slightly higher levels, especially after eating.
If the body does not produce enough insulin
to move the sugar into the cells, the resulting high levels of sugar in the blood and the inadequate amount of sugar in the cells together produce the symptoms and complications of diabetes.
5.Fanconi Anemia:
Fanconi anemia (FA) is one of the inherited anemias that leads to bone marrow failure (aplastic anemia). It is a recessive disorder: if both parents carry a defect (mutation) in the same FA gene, each of their children has a 25% chance of inheriting the defective gene from both parents. When this happens, the child will have FA.
There are at least thirteen FA genes (A, B, C, D1 (BRCA2), D2, E, F, G, I, J, L, M and N). These genes account for almost all of the cases of Fanconi anemia. Mutations in FA-A, FA-C, and FA-G are the most common and account for approximately 85% of the FA patients worldwide. FA-D1, FA-D2, FA-E, FA-F, and FA-L account for 10%. FA-B, FA-I, FA-J, FA-M, and FA-N represent less than 5% of FA patients. Twelve of the Fanconi anemia genes have been cloned.
FA occurs equally in males and females. It is found in all ethnic groups. Though considered primarily a blood disease, it can affect all systems of the body. Many patients eventually develop acute myelogenous leukemia (AML) and at a very early age. FA patients are extremely likely to develop head and neck, gynecological, and/or gastrointestinal squamous cell carcinomas, again at a much earlier age than in squamous cell carcinoma patients in the general population. Patients who have had a successful bone marrow transplant and, thus, are cured of the blood problem associated with FA still must have regular examinations to watch for signs of cancer. |
