“Patau Syndrome (Trisomy 13) was first observed by Thomas Bartholin in 1657, but the chromosomal nature of the disease was ascertained by Dr. Klaus Patau in 1960. The disease is named in his honor. In England and Wales during 2008–09 there were 172 diagnoses of Patau's syndrome (trisomy 13), with 91% of diagnoses made prenatally. There were 111 elective abortions, 14 stillbirth/miscarriage/fetal deaths, 30 outcomes unknown, and 17 live births. Approximately 4% of Patau's syndrome with unknown outcomes are likely to result in a live birth, therefore the total number of live births is estimated to be 18. The small percentage of babies with the full Patau's syndrome who survive birth and early infancy may live to adulthood, and children with mosaic or partial forms of this trisomy may have a completely different and much more hopeful prognosis.”
Patau Syndrome (Trisomy 13) is a congenital (present at birth) disorder which is associated with the presence of an extra 13th chromosome. Patau Syndrome includes severe intellectual disability, as well as health problems involving nearly every organ system in the body. Unfortunately, most babies born with trisomy 13 die by age 1.
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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 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
However, in a person with PWS, the 15th chromosome has been given 2 genes from the mother, and none from the father. This is called maternal UPD ( uni-parent disomy) in which 2 copies of the maternal chromosome are inherited with no paternal contribution. Despite the presence of 2 intact chromosomes, there is a functional abnormality in the imprinting that may lead to the absence of gene expression from the paternally donated chromosome, resulting in the PWS phenotype (physical trait) that is common in persons with PWS.
In 1980, the first reported case of Angelman disease was reported in America. As more and more children were being diagnosed with Angelmans disease, a professor from the University of Florida, Dr. Charles Williams, started researching the disease. Years went by with no progress, but then in 1987 Dr. Williams discovered that a code was missing from chromosome 15. This new information was a breakthrough, but it would still until 1997 to figure out that the UBE3A gene on chromosome 15 was mutilated or missing in patients diagnosed with Angelman disease. Since 1997 doctors and scientists have been able to find that Angelman disease is a neuro-genetic disorder which means that Angelman disease is very complex and attacks the nervous system. They have also been able to determine that the disease is rarely inherited and that the mutilation of the UBE3A gene occurs during sperm and egg formation.
As a child growning up, a lot of you may have had these certain condition. I think these the the normal conditions of a child in general. All children may not experience these certain condition at the same time in life, but I am sure nearly all ch...
Hutchinson-Gilford Progeria Syndrome other wise known as “Progeria”, or “HGPS”, is a very rare, and fatal genetic disorder characterized by an appearance of accelerated aging in young children. The rate of aging is accelerated up to seven times that of a normal life span in first 13 years of life. Progeria comes from the Greek word (πρό), “pro” meaning premature and (γῆρας), “gerias” meaning old age. While there are different forms of Progeria, the most sever form of progeria is formally known as Hutchinson-Gilford Progeria Syndrome, which was named after the doctors in England: in 1886 by Dr. Jonathan Hutchinson who described the syndrome, and by Dr. Hastings Gilford who independently discovered it in 1904 (Jameson).
Many people have heard the term cerebral palsy and may have a personal perception about the appearance and effects of this
lip, skin folds at the corners of the eyes, indistinct groove on the upper lip, and an
In 1965, Dr. Harry Angelman, an English physician, first described three children with characteristics now known as the Angelman syndrome. Angelman syndrome is a neuro-genetic disorder that is usually diagnosed at a very young age, and it happens within 1 in every 15,000 births. Angelman syndrome have symptoms that can be easily mistaken with cerebral palsy or autism. Symptoms of the disorder include developmental delay, lack of speech, seizures, walking and balance disorders, sleep disturbances, hyperactivity, and frequent laughter or smiling. If a baby or child is diagnosed with Angelman syndrome they will require life-long care due to the fact that there is no cure. Due to having similarities with autism and cerebral palsy, Angelman syndrome is often misdiagnosed. Misdiagnoses are a prevalent problem today which can also lead to late diagnoses as well. When this happens, the lost time may cause inflicted individuals to lose opportunities for early intervention programs, life-altering treatments, resources, and customized personal support.
About one out of every 10,000 to 100,000 births, a child is born with the birth defect: Poland Syndrome or Poland Anomaly. The birth defect can be apparent from either birth or adolescence depending on ...
While pregnancies with a trisomy (a baby which has receive an extra chromosome) or a monosomy (have a missing chromosome) may go to full-term and result in the birth of a child with health problems, it is also possible that the pregnancy may miscarry, or that the baby is stillborn, because of the chromosome abnormality. In studies of first trimester miscarriages, about 60 percent (or more) are chromosomally abnormal. In studies of babies who are stillborn, 5 to 10 percent have a chromosome
the disorder depends on the status of the mother and of the father. The figure below
My disorder is Cri du Chat. Cri du chat syndrome known as chromosomes fivep deletion syndrome also called le jeune's syndrome. Cri du chat sounds like a cat crying when really it is a child crying. This disease last the child’s whole life. Cri du Chat is a very rare disease. The Main reason for the chromosome 5 deletion is not known. Most of the time the chromosome break down happens while the parents sperm or egg cell is still developing. This means the child develops the syndrome when fertilization happens. So your not born child has a raised chance of being born with the syndrome if you have any history of cri-du-chat syndrome. Some cases of cri du chat syndrome are not inherited.
Paget’s disease persistent condition by the normal bone remodeling process. The regular bone has a balance that makes it lay down new bone and take up the old bone. We are suppose to have a normal calcium level in our blood with the bone remodeling. Paget’s disease is affected mostly in older bones of adults. Don’t get me wrong Paget’s disease can be found in children which is called juvenile Paget’s disease. Another name for Paget’s disease is osteitis deformans.
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 signs and symptoms of PKU always very from mild to severe most of the time the severe case is found in infants who the infant appears perfectly normal until four to eight months or more down the road. With treatment being ignored the patient would show signs and symptoms of seizures, delayed development, behavioral problems, and psychiatric disorders these are the most sign and symptoms that are seen. Patients that go untreated will develop a musty or mouse like odor which is noted as a side effect of phenylalanine. Children with PKU show lighter skin and hair than those children who are not affected with PKU. A mutation found in the PAH gene that leads to formation of a nonfunctional ph...