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What is jacobsen syndrome?
Jacobsen syndrome is a condition caused by a loss of genetic material from chromosome 11. Because this deletion occurs at the end (terminus) of the long (q) arm of chromosome 11, Jacobsen syndrome is also known as 11q terminal deletion disorder. The signs and symptoms of Jacobsen syndrome vary considerably. Most affected individuals have delayed development, including the development of motor skills (such as sitting, standing, and walking) and speech. Most also have cognitive impairment and learning difficulties. Behavioral problems have been reported, including compulsive behavior (such as shredding paper), a short attention span, and easy distractibility. Many people with Jacobsen syndrome have been diagnosed with attention deficit-hyperactivity disorder (ADHD). Jacobsen syndrome is also characterized by distinctive facial features. These include small and low-set ears, widely set eyes (hypertelorism) with droopy eyelids (ptosis), skin folds covering the inner corner of the eyes (epicanthal folds), a broad nasal bridge, downturned corners of the mouth, a thin upper lip, and a small lower jaw. Affected individuals often have a large head size (macrocephaly) and a skull abnormality called trigonocephaly, which gives the forehead a pointed appearance. More than 90 percent of people with Jacobsen syndrome have a bleeding disorder called Paris-Trousseau syndrome. This condition causes a lifelong risk of abnormal bleeding and easy bruising. Paris-Trousseau syndrome is a disorder of platelets, which are blood cell fragments that are necessary for blood clotting. Other features of Jacobsen syndrome can include heart defects, feeding difficulties in infancy, short stature, frequent ear and sinus infections, and skeletal abnormalities. The disorder can also affect the digestive system, kidneys, and genitalia. The life expectancy of people with Jacobsen syndrome is unknown, although affected individuals have lived into adulthood
Who discovered ehlers-danlos syndrome?
Ehlers-Danlos Syndrome was discovered by Edvard L. Ehlers, a Danish dermatologist who first discovered the disease in 1901. Henri-Alexandre Danlos, a French dermatologist published his own description of the disease in 1908.
Who discovered langer giedion syndrome?
Langer-Giedion syndrome was first described by A. Langer and I. Giedion in 1968. They reported a series of cases with distinctive physical features, including skeletal abnormalities and multiple benign growths called osteochondromas.
Who discovered Sotos Syndrome?
Sotos syndrome was first described in 1964 by a pediatrician named Juan F. Sotos. He observed the unique characteristics of the syndrome in several children he encountered in his practice.
Who first discovered WAGR syndrome?
WAGR syndrome was first described by Dr. Rudy WAGR, who noticed a pattern of symptoms in four children who had similar characteristics. The syndrome was later named after the initials of the symptoms it encompasses (Wilms' tumor, aniridia, genitourinary anomalies, and mental retardation).
How was Jacobsen Syndrome discovered?
It as first discovered by Danish physician Petra Jacobsen. It was discovered through genetic testing of children, thought to have genetic disorders. Its also referred to as 11q terminal deletion disorder
Could Jacobsen syndrome have been prevented?
No. Jacobsen cannot be prevented. This syndrome happeneds randomly while conceiving the baby.
What is the location of the defective chromome in Jacobsen Syndrome?
See link for information.
Was aase syndrome discovered in 1985?
Aase syndrome
What has the author Paula Jacobsen written?
Paula Jacobsen has written: 'Understanding how Asperger children and adolescents think and learn' -- subject(s): Asperger's syndrome, Education, Learning disabled children, Patients
Is jacobsen syndrome dominant?
Jacobsen symptom is neither dominant nor recessive because it is not a sex-linked disorder. This disorder is a mutation, specifically a partial deletion. Part of the long arm (q) of chromosome 11 is deleted.
Who discovered Wolfram syndrome?
Wolfram syndrome was first discovered by DJ Wolfram who was a US phycisian at the Mayo clinic
Who discovered moebius syndrome?
Paul Moebius, a neurologist who first described the syndrome in 1888.
What is the history of Asperger's Syndrome?
Asperger's Syndrome was discovered by Hans Asperger in 1944.
What is jacobsen syndrome?
Jacobsen syndrome is a condition caused by a loss of genetic material from chromosome 11. Because this deletion occurs at the end (terminus) of the long (q) arm of chromosome 11, Jacobsen syndrome is also known as 11q terminal deletion disorder. The signs and symptoms of Jacobsen syndrome vary considerably. Most affected individuals have delayed development, including the development of motor skills (such as sitting, standing, and walking) and speech. Most also have cognitive impairment and learning difficulties. Behavioral problems have been reported, including compulsive behavior (such as shredding paper), a short attention span, and easy distractibility. Many people with Jacobsen syndrome have been diagnosed with attention deficit-hyperactivity disorder (ADHD). Jacobsen syndrome is also characterized by distinctive facial features. These include small and low-set ears, widely set eyes (hypertelorism) with droopy eyelids (ptosis), skin folds covering the inner corner of the eyes (epicanthal folds), a broad nasal bridge, downturned corners of the mouth, a thin upper lip, and a small lower jaw. Affected individuals often have a large head size (macrocephaly) and a skull abnormality called trigonocephaly, which gives the forehead a pointed appearance. More than 90 percent of people with Jacobsen syndrome have a bleeding disorder called Paris-Trousseau syndrome. This condition causes a lifelong risk of abnormal bleeding and easy bruising. Paris-Trousseau syndrome is a disorder of platelets, which are blood cell fragments that are necessary for blood clotting. Other features of Jacobsen syndrome can include heart defects, feeding difficulties in infancy, short stature, frequent ear and sinus infections, and skeletal abnormalities. The disorder can also affect the digestive system, kidneys, and genitalia. The life expectancy of people with Jacobsen syndrome is unknown, although affected individuals have lived into adulthood
When was the Down Syndrome recognized?
The cause of Down Syndrome was discovered in 1958 by Jérôme Lejeune.
Who discovered Edwards' Syndrome?
John Edwards
