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Article and research paper on achondroplasia
Article and research paper on achondroplasia
Article and research paper on achondroplasia
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Achondroplasia is also known as short limb dwarfism.
The symptoms of achondroplasia are: short height, short appendages, an abnormally large head, distinct facial features, bulging forehead, upper jaw, cheekbones, and eye sockets grow less than the other parts of the face, and difficulty breathing.
Other symptoms include breathing issues, ear infections, walking issues, and hunched legs, obesity, abnormal movements of the back, and back pain.
Achondroplasia is not usually inherited. When it is, achondroplasia is inherited in an autosomal dominant way. This is because the gene is located on a non-sex chromosome that is always shown when there is this genetic disorder in the DNA.
Achondroplasia is a genetic disorder caused by a single gene,
ACHONDROPLASIA is known as being undersized, or less than 50in. in height. Having short limbs, a normal sized trunk, large head with a depressed nasal bridge and small face. This is a result of a disease in the thyroid gland. It can also be caused by Down syndrome or absorption, a cartilaginous tissue during the fetal stage. Hypochondroplasia, a mild form of dwarfism. Spinal tuberculosis and the deficiency of the pituitary gland secretions. Treatment with thyroxin or thyroid extract early in childhood results in normal growth and development. Somatrophin, also known as the human growth hormone is secreted by the anterior pituitary. Respiratory problems start to occur in infants. Symptoms of problems include snoring and sleeping with neck in a hyperextended condition. The limbs have rhizometic shortening. The legs are straight in infantry but when a child. He begins walking they develop a knock-knee position. When the child continues to walk legs begin to have a bowed-leg look. Occasionally, these curvatures are fixed. As the child continues to walk the kyphosis disappears and the back assumes a lordotic posture. If a delay in child’s walking occurs, the spine should be monitored closely for signs of gibbous formation. In infancy, hypercephalus can occur. Infants head circumference should be monitored close . Monthly checks of head circumference must be monitored. Radiologic studies are indicated if head circumference raises to disproportionately, or if symptoms of hydrocephalus. Child’s pediatrician should have a copy of head circumference curves for children with achondroplasia. Radiologic procedures for dwarfism include head ultrasound, C-T scan, or MRI of the head. If intervention is necessary, a ventriculoperitoneal shunt is placed relieving the pressure. Infants should also be monitored for foramen magnum compression. It is the opening at the base of the skull in which the brain stem and cervical spinal cord exit. When you have achondroplasia the foramen magnum is compressing the brain stem and spinal cord. Symptoms of narrowing include apnea the cessation of breathing and cervical myleopathy. C-T scans and MRI scans are done to examine the size of the infectious foramen magnum. A neurosurgical procedure called a foramen magnum decompression is executed to alarge foramen and alleviate further symptoms. Adolescents are at risk of getting lumbosacral spinal stenosis. The lumber spinal cord or nerve roots become compressed producing nerosurgical symptoms. Initial symptoms including weakness, tingling, and pain of the legs. Pain usually alleviated by assuming a squatting position.
Sex-linked disorders only affect males and are passed down through female carriers. A boy inherits the disorder when he receives an X chromosome with a mutated dystrophin gene (the genetic cause) from his mother. The dystrophin gene is the largest gene found in nature and was identified through a positional cloning approach. It's a highly complex gene, a large rod-like cytoskeletal protein which is found at the inner surface of muscle fibers. (www.ncbi.nlm.nih.gov)
The head is unable to grow normally, which can lead to a misshapen skull, widely spaced eyes, and a bulging forehead. At birth, the bones of the skull are not joined together; they close up as the child grows. In Jackson-Weiss syndrome, the skull bones join together too early. This is called "craniosynostosis." Foot abnormalities are the most consistent characteristic, as not all individuals with Jackson-Weiss syndrome have abnormal skull or facial features. The big toes are enlarged and bend away from the other toes. They have very different ways off forming in the feet including the big toes are short and wide, the big toes also bend away from other toes, and the bones of some toes may be fused together which they call “syndactyly” or abnormally
It is characterized by normal early growth and development followed by a slowing of development, the loss of purposeful use of the hands, slowed brain and head growth, problems with walking, seizures, and intellectual disability.
· genetics: occasionally the disease has a tendency to run in certain families (inherited or genetic predisposition), but this is not common.
It is pretty outstanding how Achondroplasia is such a common disorder. However, what is really mind boggling is that there is still no cure or treatment that a person could go through. Since the disorder is so common and so impactful, you would think more research would be dedicated to finding a cure. Achondroplasia has many painful side effects and causes much strain on people’s lives. If a person suffers from Achondroplasia and decides to have kids, they have a 50% chance of passing it on to their children. Overall, Achondroplasia is a debilitating autosomal disorder that causes unnecessary amounts of strain on everyday lives.
lip, skin folds at the corners of the eyes, indistinct groove on the upper lip, and an
There are numerous symptoms to having gigantism. People with this disease can have abnormally large heads, tongues, hands, fingers, and toes. They may have enlarged organs that can cause high blood pressure, diabetes, heart failure, or diminished vision. Two common symptoms are excessive sweating and headaches. Sometimes gigantism causes them to have a deep voice or have a late onset of puberty. For teen girls, they may have irregular periods. Also, having gigantism can cause a person to become obese.
head result in a variety of results such as caved in faces, heads split in half,
Obvious signs include crooked spine while bending over, fatigue, shortness of breath, uneven hemline on shirts, and an asymmetrical waistline. Less obvious signs must be detected by health professionals through early screening, or diagnosed by your physician during a comprehensive physical exam.
For almost all types of Albinism both parents or mates must carry an albinism gene in order for their child to have albinism. Because the body has two sets of genes, a person may have normal pigmentation but carry the albinism gene. If a person has one normal gene and one albinism gene that is still enough to pass the disease on to their children. Even if both parents have the albinism gene it does not mean they have the sickness. The baby will have a one out of four chance of getting the disease. This is inherited by autosomal recessive inheritance.
...e, mouth, face, or whole body; involuntary chewing, sucking, and lip smacking; and jerky movements of the arms, legs, or entire body” (Comer, 2011, p. 379).
will generally worsen when coughing, sneezing or moving. Chills, fever and a loss of appetite
Advanced symptoms include cardiovascular system failure, respiratory system failure, kidney failure, and pneumonia these symptoms are rare and usually only appear in the elderly.
The patient has experienced fever, chills on body, headaches and anorexia as well as sweating especially during the night. The patient has also been feeling fatigued, muscle aches and nausea as well as vomiting especially after eating (WHO, 2010, p. 117). These symptoms started forty eight hours ago, and the patient has not taken any medication except for some aspirin.