Klippel-Feil syndrome is a rare disorder in which any of the 7 neck vertebra (usually 2) are fused together. It is a congenital disorder, which means it's present at birth and most likely occurred while the individual was still a fetus or embryo.
Signs include a short, webbed neck, low hairline at the back of the head, and restricted mobility of the neck. Note that not everyone with it has all three symptoms, usually 1 or two are present. Individuals may also have other conditions found in the area of the body, like Sprengel's shoulder, when one should blade is slightly higher than the other.
KFS can also have impacts on other areas of the body, like heart defects and kidney problems. Because KF involves vertebra, it can also have damage to the central nervous system, like brain abnormalities. Despite these problems, having KFS is usually not fatal. It is indeed a rare condition, thought to occur in 1 out of 40,000-45,000 babies born worldwide, but this isn't certain and the disease's true prevalence remains largely unknown.
Source: Myself (I have KFS myself, and have largely no difficulties.)
Patau's Syndrome Trisomy 13 Syndrome Trisomy D Syndrome Trisomie 13 Trisomee Trisome Trisomic Chromosomal Abnormalities, Chromosome Anomalies, Disorder Fetal Aneuploidy
Yes and she is also the spokesperson for the Turner Syndrome Society.
Restless Leg Syndrome (RLS) is also known in the medical community as Ekbom Syndrome and Wittmaack-Ekbom Syndrome. Anxietas Tiblarum and Anxietas Tibialis are also medical names for Restless Leg Syndrome.
Cri du chat syndrome is a rare disorder which affects persons missing a part of chromosome 5. Some other names are cat cry syndrome, 5P deletion syndrome, and monosomy 5P.
Trisomy means having three copies of a chromosomes. Turner's syndrome is NOT an example of trisomy. Someone with Turner's syndrome has only one X chromosome. Down's syndrome IS an example of trisomy. Someone with Down's syndrome has 3 copies of chromosome 21. Klinefelter's syndrome is a tricky one. On one hand, it would be considered trisomy because they have 3 sex chromosomes. However, they are not all the SAME sex chromosomes. Someone with Klinefelter's has 2 X chromosomes and one Y chromosome.
Syndactyly is a characteristic of Apert syndrome, Poland syndrome, Jarcho-Levin syndrome, oral-facial-digital syndrome, Pfeiffer syndrome, and Edwards syndrome
Stockholm syndrome.
Syndactyly is a characteristic of Apert syndrome, Poland syndrome, Jarcho-Levin syndrome, oral-facial-digital syndrome, Pfeiffer syndrome, and Edwards syndrome.
XXXY Syndrome and Barr-Shaver-Carr Syndrome are the same.
Cushing's Syndrome
Disorders, such as Down's Syndrome, are caused by nondisjunction.
what is kinefelter syndrome?
yes there is.
Angelman syndrome is a genetic disorder, as is Down syndrome. But they are not the same. Angelman Syndrome involves a deletion of Chromosome 15, whereas people with Down syndrome have an extra copy of Chromosome 21.
also known as Martin-Bell syndrome, Marker X syndrome, and FRAXA syndrome
no
Alport Syndrome