There are many possible reasons why a child may grow slowly, including: hereditary factors (short parents), diseases affecting the kidneys; heart, lungs or intestines; hormone imbalances; severe stress or emotional deprivation; infections in the womb before birth; bone diseases; and genetic or chromosomal abnormalities. The Turner Syndrome (known as Ullrich-Turner Syndrome in Germany) is a congenital disease. A German doctor named Ullrich published his article in 1930. American doctor Henry Turner recognized a pattern of short stature and incomplete sexual maturation in otherwise normal females. He published a comprehensive medical description of the syndrome. It was not until 1959, that it became clear the syndrome was due to lack of sex chromosome material. Turner's Syndrome is a rare chromosomal disorder that affects one in approximately 2,500 females. Females normally have two X-chromosomes. However, in those with Turner's Syndrome, one X chromosome is absent or is damaged. OTHER NAMES Depending on the doctor, Turner's Syndrome may be diagnosed with one of the following alternative names: 45 - X Syndrome, Bonnevie-Ulrich Syndrome, Chromosome X, Monosomy X, Morgagni- Turner-Albright Syndrome, Ovarian Dwarfism, Turner Type, among others. SYNDROME CHARACTERISTICS A reduced growth in height is the commonest visible characteristic of the syndrome, (the average adult height is 4 feet 8 inches) and may be the only sign before puberty. Their body proportions are normal. Girls with this syndrome may have many middle ear infections during childhood; if not treated, these chronic infections could cause hearing loss. Up to the age of about 2 years, growth in height is approximately normal, but then it lags behind that of other girls. Greatly reduced growth in height of a female child should lead to a chromosome test if no diagnosis has already been made. Early diagnosis is very importance in order to be able to give enough correct information to the parents, and gradually to the child herself, so that she has the best possibilities for development. Early diagnosis is also important in case surgical treatment of the congenital heart defect (seen in about 20 per cent of cases) is indicated. The commonest defect is a narrowing of the main artery from the heart aortic coarctation. A regular ultrasound examination of the heart ... ... middle of paper ... ...s are relatively limited. So far, researchers think it will be possible to increase the final height by 5-10 centimeters, depending on the duration of treatment. Treatment is started at slightly different ages in different countries, but often at an age of about 6-7 years. In order to achieve puberty development and a body height of more than the average of about 146 cm, oestrogen and growth hormone must be given. Oestrogen therapy should start after one has taken the growth hormone for at least two years (about 12-13 years old is average), using small doses at first to promote sexual development. Oestrogen is gradually supplemented by progesterone (a stronger female hormone) as the girl matures. The treatment can be given as tablets, injections, or oestrogen plaster. Identification and Cure Although Turner Syndrome can be identified in the fetus or with a blood test, there is not a known cure for it. With growth hormone replacement therapy and oestrogen injections (female hormones), the female victim of Turner syndrome can live an outwardly normal life. Ongoing research in reproduction and adoption make it possible for these women to marry and raise children.
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.
While it is rare to have a diagnosis in children younger than 12 years of age, it does happen. Average age of onse...
Although for some females, symptoms of Turner’s syndrome aren’t as well evident until later on in the indi...
Here are some interesting facts about Turner’s. This syndrome affects 60,000 women in the United States, and is seen 1 to 2500 babies born and about 800 cases are diagnosed each year. The single X chromosome comes from the mother in 75% to 80% of cases. A woman with Turner’s Syndrome, who is untreated, averages around four feet eight inches in height. A female, XX, who is missing one of the X chromosomes, can survive. However, a male cannot survive without the X chromosome. Butterflies are seen as a symbol of hope for girls who have Turner’s Syndrome.
As a pediatrician and urologist specifically concentrating on disorders of sexual development (DSD)- “congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical” (Arnold/Saguy, Lecture 11)- every once in a while, a pregnant woman, whose first child is born with congenital androgen hyperplasia (CAH), comes to my office asking for a medicinal point of view on the biological, psychological, and ethical methods of treatment of her second child. Since recent advancements in research on ambiguous genitalia has uncovered several treatments that attempt to prevent certain disorders of sexual development in children, the woman comes in for insight on a steroid treatment specifically to avoid her second child developing ambiguous genitalia.
This genetic disorder is not specific to a certain age, ethnic group, or gender; theref...
particularly if the treatment is started at a young age (Ross par. 15). The growth hormone treatment can eventually increase the girl’s final adult height by several inches.
The type of mutation that occurs in Down syndrome is aneuploidy that is the irregular number of chromosomes in a cell. The most common of the three is the trisomy 21 that occurs in about 90% of people with the disorder. In this factor the human is given three copies of the chromosome 21 instead of the common two copies. This occurs due to the complications of the cell division in the process of the egg or sperm. The next case is mosaic which happen when there are inequality of cells with three copies of chromosome 21 and others with the original two copies. Mosaic appears when there is an unexpected cell division after fertilization. The last and the rarest form is translocation and that happens while the chromosome 21 in cell division is broken off and attached to another chromosome. Since the disorder is unexpected there are numerous amounts of risk factors that are possible based on the severity of the person.
Rett syndrome is a particular neurological disorder that is first found in the first few months of life and typically almost always diagnosed in girls, but can be seen in boys, rarely, but it is possible (International Rett Syndrome Foundation, 2014). Rett syndrome symptoms soon appear after an early period of regular or near regular development until six to eighteen months of life, when there is a slowing down or stopping of skills. A period of backsliding then follows when the young female child loses communication skills and purposeful use of her hands. Soon, the known physical handicaps became visible such as washing hands, difficulty walking, and head growth abnormalities, the head will grow slower than it supposed to. More symptoms that may be brought on by the syndrome can include seizures and rapid and/or slow breathing repetitions while the child is not sleep. In the younger years of childlife, there may be a time of separation or withdrawal when she is irritable and cries inconsolably. With time, motor skill problems may increase, but in generally, the irritability the child endures lessens and eye contact and communication improve (International Rett Syndrome Foundation, 2014). According to rettsyndrome.org, Rett syndrome is caused by mutations on the X chromosome on a gene called MECP2. There are more than 200 different mutations found on the MECP2 gene. Most of these mutations are found in eight different spots. It strikes all racial and ethnic groups, and occurs worldwide in 1 of every 10,000 to 23,000 female births (Rett Syndrome Foundation, 2014). It is not a degenerative disorder, saying that this syndrome does not cause the body or the mind of the infected child to become weaker. It also causes problems in brai...
Tay Sacs is a genetic disease.autosomal recessive genetic disorder. In its most common variant, known as infantile Tay–Sachs disease, it causes a relentless deterioration of mental and physical abilities that commences around six months of age and usually results in death by the age of four.It is caused by a genetic defect in a single gene with one defective copy of that gene inherited from each parent.Research in the late 20th century demonstrated that Tay–Sachs disease is caused by a genetic mutation on the HEXA gene on chromosome 15. A large number of HEXA mutations have been discovered, and new ones are still being reported. These mutations reach significant frequencies in several populations
The life expectancy of someone with TS is actually a little less than the average person, and it can be just as long if the symptoms are under control with the treatments mentioned above. Going through life with Turner Syndrome, a female will not need a long list of medications to take. Growth hormone injections, estrogen and progesterone tend to be it for any medicinal treatments. It is definitely important that a female with TS exercises frequently and eats correctly every day to prevent obesity through life. Normally a woman with TS is infertile but she can consider an embryo donation if she really wants to have a child of her own (she should keep in mind that any pregnancy with Turner Syndrome will be at high risk). In the early life of a girl with Turner Syndrome, it is important that the child is treated with as much patience as possible. With Turner Syndrome a female has normal intelligence but it takes a lot more work to learn everything. Because of this, it is very important that the child’s teacher or caretakers are completely aware of the patience it takes to work with the child. The parents of a child with TS need to be responsible, loving and
Williams Syndrome, also known as Williams-Beuren Syndrome, is a genetic disorder caused by a deletion along chromosome seven. It is named for the two men who discovered and studied it in 1961, J.C.P. Williams of the United States and A.J. Beuren of Germany. Those with the disorder can be identified by their characteristic facial structure, the presence of cardiovascular anomalies and hypercalcemia, and a bright, outgoing personality. The exact number of those affected is unknown, however experts estimate that the probability of having Williams Syndrome is between 1 in 7,500 and 1 in 20,000, and occurs equally in men and women of every nationality.
Swan, S.H., F. Liu, J.W. Overstreet, C. Brazil, and N.E. Skakkebaek. "Growth Hormones Fed to
There are many different types of dwarfism that researchers have confirmed today, but there still are many genes for dwarfism that remain unidentified.The most common of these known causes is achondroplasia, a bone growth disorder.The Little People Online website states that most dwarfs who suffer from achondroplasia are born to “average-size” parents, and that their birth rate is somewhere between onein26,000-40,000www.lpaonline.org).The main characteristics of this form of dwarfism are normal trunk size with short appendages, irregularly large heads wi...
...omosomes or genetic/chromosomal disorders. The most common type of genetic or chromosomal disorder is Down Syndrome or trisomy 21 (Cherry, n.d.). The condition occurs when a child has three chromosomes at the site of the twenty-first chromosome rather than the normal two. Some of the most common signs of Down Syndrome include round face, thick tongue, slanted eyes, hearing problems, heart defects, and intellectual impairment.