kostmann's syndrome symptoms
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Neutropenia, Severe Congenital 3, Autosomal Recessive MalaCards based summary: Neutropenia, Severe Congenital 3, Autosomal Recessive, also known as kostmann disease, is related to severe congenital neutropenia and dentin dysplasia, type i, with microdontia and misshapen teeth, and has symptoms including neutropenia, seizures and global developmental delay.
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- The list of signs and symptoms mentioned in various sources for Poland Syndrome includes the 15 symptoms listed below: One underdeveloped pectoral muscle. Absence of one pectoral muscle. One underdeveloped nipple. Absence of one nipple. One underdeveloped areola. Absence of one areola. Rib defects.
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- Gulf War Syndrome Symptoms and Signs. The symptoms that are associated with the Gulf war syndrome are myriad and most often they don’t appear at the same time. Persons, especially military persons or veterans, who are diagnosed to have such syndrome, will manifest the following symptoms: Loss of muscle control; Headaches; Loss of balance; Mood wings
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- Signs and symptoms of Cushing's syndromeCushing's syndrome - a disease where too much cortisol is being made include: 1  Weight gain – particularly around the gut or mid-section.  2 Moon face – a rounded shape of the face that develops from a specific pattern of fat distribution.
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Wolfram syndrome In addition to the signs and symptoms found in Wolfram syndrome type 1, people with Wolfram syndrome type 2 may also have stomach and/or intestinal ulcers; and a tendancy to bleed excessivly after injuries.
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Overview The two main symptoms of Sjogren's syndrome are: 1  Dry eyes. Your eyes may burn, itch or feel gritty — as if there's sand in them.  Dry mouth. Your mouth may feel like it's full of cotton, making it difficult to swallow or speak.
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Causes of Stevens Johnson Syndrome Stevens-Johnson Syndrome is a serious, potentially life-threatening skin disease. With Stevens-Johnson Syndrome the sufferer can first experience non-specific symptoms, such as headaches, aching body, fever, and a bad cough. Then a rash may develop over the face and trunk of the body, which then spreads to other parts of the body. The rash is patchy and can spread to various areas of the body.
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- Most of the time, people with Kallmann syndrome resulting from an ANOS1 gene mutation inherit the mutation from their mothers, who carry a single altered copy of the gene in each cell (and generally do not have any signs or symptoms of the condition). Other people have Kallmann syndrome as a result of a new mutation in the ANOS1 gene.
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Diffuse idiopathic skeletal hyperostosis Common symptoms reported by people with Diffuse Idiopathic Skeletal Hyperostosis. Reports may be affected by other conditions and/or medication side effects. We ask about general symptoms (anxious mood, depressed mood, insomnia, fatigue, and pain) regardless of condition.
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Ehlers-Danlos Syndrome 1 Danlos syndromes symptoms and signs are joints that are more flexible than normal and loose skin that stretches away from the body.  The diagnosis of Ehlers-Danlos syndrome is based upon the clinical findings of the patient and the family history.
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Stevens Johnson syndrome Stevens Johnson syndrome symptoms. A person that is affected by the syndrome will experience coughs, sore throat, fever and burning sensation in the eyes. The individual may not know that he or she has Stevens Johnson syndrome until skin rashes emerge several days after the early symptoms appear. Among the manifestations of the syndrome include: 1  Skin pain. 2  Inflamed tongue and face. 3  Hives. 4  Skin sloughing. 5  Purple or red rashes on the skin. 6  Blisters on the skin, mouth, eyes, nose and mucous membranes.
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- Review the available symptom checkers for these symptoms of Stevens-Johnson Syndrome: 1  Skin lesions (painful) -- Symptom Checker. 2  Skin blisters -- Symptom Checker. 3  Mucous membrane lesions -- Symptom Checker. 4  Mouth rash -- Symptom Checker. 5  Throat rash -- Symptom Checker. 6  Anus rash -- Symptom Checker. 7  Genital rash -- Symptom Checker.
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Henoch-Schonlein Purpura (HSP) Symptoms of Henoch-Schonlein Purpura. The classic symptoms of HSP are rash, joint pain and swelling, abdominal pain, and/or related kidney disease, including blood in urine.
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Cushing's syndrome Symptoms of Cushing's syndrome. Symptoms include rapid weight gain, particularly of the trunk and face with sparing of the limbs (central obesity). Common signs include the growth of fat pads along the collarbone (supraclavicular fat pads), on the back of the neck (buffalo hump), and on the face ( moon face ).
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Wiedemann Rautenstrauch Syndrome Wiedemann-Rautenstrauch syndrome (WRS), also known as neonatal progeroid syndrome, is a very rare genetic disorder characterized by an aged appearance at birth (old man look) growth delays before and after birth (prenatal and postnatal growth retardation), and deficiency or absence of the layer of fat under the skin (subcutaneous lipoatrophy).
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- Review the available symptom checkers for these symptoms of Cushing's syndrome: 1  Facial hair growth -- Symptom Checker. 2  Acne -- Symptom Checker. 3  High blood pressure -- Symptom Checker. 4  Tiredness -- Symptom Checker. 5  Muscle weakness -- Symptom Checker. 6  High blood pressure -- Symptom Checker.
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Symptoms of Axenfeld-Rieger syndrome Symptoms of Axenfeld-Rieger syndrome. The list of signs and symptoms mentioned in various sources for Axenfeld-Rieger syndrome includes the 25 symptoms listed below: Congenital glaucoma.
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What is KLS? In addition to excessive sleep, a Kleine-Levin Syndrome (KLS) patient’s whole demeanor is changed, often appearing “spacey” or childlike. When awake the patient experiences confusion, disorientation, complete lack of energy (lethargy), and lack of emotions (apathy).
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Schneiderian First Rank Symptoms Re: Schneiderian First Rank Symptoms. 8. Made Feeling. The patient has the experience that his feelings are not his own, they have been imposed upon him. 9. Made Impulses. The patient experiences and generally acts upon a compelling impulse which he believes is not his own.
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Keratoconus Symptoms Left: normal cornea; right: cornea with keratoconus. In later stages, keratoconus symptoms often include: more blurry and distorted vision. increased nearsightedness or astigmatism (when your eye cannot focus as well as it should). As a result, you may need new eyeglass prescriptions often. not being able to wear contact lenses.
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Overview Symptoms. The severity of fetal alcohol syndrome symptoms varies, with some children experiencing them to a far greater degree than others. Signs and symptoms of fetal alcohol syndrome may include any mix of physical defects, intellectual or cognitive disabilities, and problems functioning and coping with daily life.
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Symptoms of Sjogren's Syndrome The dry mouth can lead to complications, such as dental cavities, and the develoment of thrush. Nosebleeds may also occur due to a dry nose. Sjogren's syndrome also causes additional widespread symptoms. These include skin rashes, joint pain, numbness and tingling in the face, fingers and toes, and fatigue.
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Beckwith-Wiedemann Syndrome or BWS: Causes, Symptoms, Treatment, Prognosis In some cases of Beckwith-Wiedemann Syndrome, the child is born with an open abdominal wall which causes the internal organs to protrude outside from the opening or the belly button. Umbilical hernia is also one of the common symptoms of Beckwith-Wiedemann Syndrome. An enlarged tongue is also a symptom of Beckwith-Wiedemann Syndrome.
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A to Z List of Neurological Disorders Gulf War Syndrome Symptoms and Signs. The symptoms that are associated with the Gulf war syndrome are myriad and most often they don’t appear at the same time. Persons, especially military persons or veterans, who are diagnosed to have such syndrome, will manifest the following symptoms: Loss of muscle control. Headaches. Loss of balance. Mood wings. Memory problems. Muscle pain. Joint pain.
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Symptoms of Cogan's syndrome The list of signs and symptoms mentioned in various sources for Cogan's syndrome includes the 7 symptoms listed below: Eye inflammation. Progressive hearing impairment. Dizziness. Deafness. Fever. Fatigue. Weight loss.
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- Joubert syndrome, which is a ciliopathy, affects brain functioning, resulting in intellectual deficits, movement and coordination problems and other symptoms such as kidney and eye problems.